S12L (p.Ser12Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
S12L (p.Ser12Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- Ensembl rs2023036588
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.41
- CADD 22.40
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available