W38C (p.Trp38Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
W38C (p.Trp38Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
W38C (p.Trp38Cys) variant details
- p.Trp38Cys
- gnomAD 1-16045571-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available