H54R (p.His54Arg) variant of CLCN1 (Chloride channel protein 1)
H54R (p.His54Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- gnomAD 7-143316373-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available