S12P (p.Ser12Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
S12P (p.Ser12Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.21
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available