S17G (p.Ser17Gly) variant of CLCN5 (P51795)
S17G (p.Ser17Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- gnomAD X-50042348-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.47
- MetaLR 0.82
- MetaSVM 0.78
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available