G34V (p.Gly34Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
G34V (p.Gly34Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- ExAC rs762515275
- TOPMed rs762515275
- gnomAD rs762515275
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available