G47V (p.Gly47Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
G47V (p.Gly47Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- ExAC rs781091568
- TOPMed rs781091568
- gnomAD rs781091568
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available