I32V (p.Ile32Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
I32V (p.Ile32Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- gnomAD 1-16044586-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.16
- CADD 1.74
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available