A58V (p.Ala58Val) variant of BCOR (BCL-6 corepressor)
A58V (p.Ala58Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs766556436
- NCI-TCGA Cosmic COSV6070
- ExAC rs766556436
- TOPMed rs766556436
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.23
- CADD 21.90
- PolyPhen-2 0.18
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available