R67H (p.Arg67His) variant of CLU (Clusterin)
R67H (p.Arg67His) in CLU (Clusterin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs760456252
- ExAC rs760456252
- TOPMed rs760456252
- gnomAD rs760456252
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- CADD 16.30
- PolyPhen-2 0.07
- SIFT 0.97
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available