R27A (p.Arg27Ala) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27A (p.Arg27Ala) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R27A (p.Arg27Ala) variant details
- p.Arg27Ala
- gnomAD 1-16044567-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 23.60
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available