P15L (p.Pro15Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
P15L (p.Pro15Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- gnomAD 1-16044536-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.61
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available