L21M (p.Leu21Met) variant of CLCNKB (Chloride channel protein ClC-Kb)
L21M (p.Leu21Met) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 1-16044553-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.47
- CADD 22.20
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available