F44V (p.Phe44Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
F44V (p.Phe44Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F44V (p.Phe44Val) variant details
- p.Phe44Val
- gnomAD 1-16045587-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.61
- CADD 20.10
- PolyPhen-2 0.40
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available