F44L (p.Phe44Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
F44L (p.Phe44Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- gnomAD 1-16045587-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.62
- CADD 22.90
- PolyPhen-2 0.73
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available