H65R (p.His65Arg) variant of CLCN1 (Chloride channel protein 1)
H65R (p.His65Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H65R (p.His65Arg) variant details
- p.His65Arg
- rs1802376355
- ClinGen CA369678968
- ClinVar RCV003144997
- TOPMed rs1802376355
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available