V11I (p.Val11Ile) variant of BCOR (BCL-6 corepressor)
V11I (p.Val11Ile) 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 0.29 / 1. The record also includes population frequency data and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs772165033
- NCI-TCGA Cosmic COSV6070
- cosmic curated COSV60702
- ExAC rs772165033
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.08
- CADD 21.20
- PolyPhen-2 0.35
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available