Q41R (p.Gln41Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
Q41R (p.Gln41Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- ExAC rs759799517
- gnomAD rs759799517
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.23
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available