P47S (p.Pro47Ser) variant of CLCN5 (P51795)
P47S (p.Pro47Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- cosmic curated COSV65802
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.41
- MetaLR 0.75
- MetaSVM 0.37
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available
- Structural context available