S25Y (p.Ser25Tyr) variant of CLCN5 (P51795)
S25Y (p.Ser25Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S25Y (p.Ser25Tyr) variant details
- p.Ser25Tyr
- gnomAD X-50042373-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.41
- MetaLR 0.67
- MetaSVM 0.34
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available