G31V (p.Gly31Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
G31V (p.Gly31Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- gnomAD 1-16044584-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- CADD 14.90
- PolyPhen-2 0.06
- SIFT 0.44
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available