R8S (p.Arg8Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
R8S (p.Arg8Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 1-16044514-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.48
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available