D49D (p.Asp49Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
D49D (p.Asp49Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D49D (p.Asp49Asp) variant details
- p.Asp49Asp
- rs1225742667
- gnomAD 1-16045604-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 10.40
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available