S26T (p.Ser26Thr) variant of CLCN5 (P51795)
S26T (p.Ser26Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S26T (p.Ser26Thr) variant details
- p.Ser26Thr
- gnomAD X-50042376-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.47
- MetaLR 0.78
- MetaSVM 0.55
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available