Table 1 Pathogenicity of two novel variants in the WFDC2 gene from patients with bronchiectasis
From: Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis
Gene | cDNA | Protein | CADD | SIFT | PolyPhen | REVEL | MetaLR | MetaRNN | Classification | Pathogenicity Varsome | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
(PhredScore) | Prediction (Score) | Prediction (Score) | Prediction (Score) | Prediction (Score) | Prediction (Score) | ACMG (Criteria) | Adjusted ACMG (Criteria) | Alpha Missense | In-silico Prediction | Meta scores | Indivi. scores | |||
WFDC2 | c. 291 C > G | Cys93Ser | 23 | Pathogenic Supporting (0) | Possibly Damaging (0.87) | Pathogenic Supporting (0.700) | Uncertain (0.712) | Pathogenic Strong (0.977) | VUS (PM2, PP3) | LP (PM2, PP3, PM3) | LP | PP3_Pathogenic Strong | 9, 2, 0 | 8, 11, 4 |
c. 278G > C | Cys97Trp | 22.1 | Pathogenic Supporting (0) | Probably Damaging (1) | Pathogenic Moderate (0.802) | Pathogenic Moderate (0.983) | Pathogenic Strong (0.986) | VUS (PM2, PP3) | LP (PM2, PP3, PP1) | LP | PP3_Pathogenic Strong | 14, 0, 0 | 15, 7, 8 | |