V11A (p.Val11Ala) variant of BCOR (BCL-6 corepressor)
V11A (p.Val11Ala) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- ExAC rs759722005
- gnomAD rs759722005
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 25.10
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available