R127H (p.Arg127His) variant of CLU (Clusterin)
R127H (p.Arg127His) 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 0.38 / 1. The record also includes population frequency data and structural context.
R127H (p.Arg127His) variant details
- p.Arg127His
- rs761369634
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57066
- ExAC rs761369634
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.69
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available