S41Y (p.Ser41Tyr) variant of CLCN5 (P51795)
S41Y (p.Ser41Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S41Y (p.Ser41Tyr) variant details
- p.Ser41Tyr
- gnomAD X-50042421-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.45
- MetaLR 0.66
- MetaSVM 0.43
- CADD 22.70
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available