G31D (p.Gly31Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
G31D (p.Gly31Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD 1-16044584-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.22
- CADD 13.90
- PolyPhen-2 0.05
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available