R21H (p.Arg21His) variant of BCOR (BCL-6 corepressor)
R21H (p.Arg21His) in BCOR (BCL-6 corepressor) 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 0.44 / 1. The record also includes population frequency data and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- rs778129253
- NCI-TCGA Cosmic COSV6071
- cosmic curated COSV60719
- ExAC rs778129253
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 26.10
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available