G10A (p.Gly10Ala) variant of CLCNKB (Chloride channel protein ClC-Kb)
G10A (p.Gly10Ala) 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 0.64 / 1. The record also includes population frequency data and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- TOPMed rs1022537062
- gnomAD rs1022537062
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.57
- CADD 23.30
- PolyPhen-2 0.46
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available