P47H (p.Pro47His) variant of CLCN5 (P51795)
P47H (p.Pro47His) 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 and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- TOPMed rs1277118243
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.50
- MetaLR 0.79
- MetaSVM 0.58
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available