S12S (p.Ser12Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
S12S (p.Ser12Ser) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs775410059
- gnomAD 1-16044528-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available