W38L (p.Trp38Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
W38L (p.Trp38Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W38L (p.Trp38Leu) variant details
- p.Trp38Leu
- gnomAD 1-16045570-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available