S20C (p.Ser20Cys) variant of CLCN5 (P51795)
S20C (p.Ser20Cys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- gnomAD X-50042357-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.54
- MetaLR 0.83
- MetaSVM 0.82
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available