P15H (p.Pro15His) variant of CLCNKB (Chloride channel protein ClC-Kb)
P15H (p.Pro15His) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P15H (p.Pro15His) variant details
- p.Pro15His
- gnomAD 1-16044536-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available