R29S (p.Arg29Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
R29S (p.Arg29Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD 1-16044577-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available