H57R (p.His57Arg) variant of CLCN1 (Chloride channel protein 1)
H57R (p.His57Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- gnomAD rs1415954354
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.17
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available