P24H (p.Pro24His) variant of CLCNKB (Chloride channel protein ClC-Kb)
P24H (p.Pro24His) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- ExAC rs387907412
- TOPMed rs387907412
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available