G6R (p.Gly6Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
G6R (p.Gly6Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD rs1295011210
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.50
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available