M72V (p.Met72Val) variant of BCOR (BCL-6 corepressor)
M72V (p.Met72Val) in BCOR (BCL-6 corepressor) is a missense change. 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.
M72V (p.Met72Val) variant details
- p.Met72Val
- gnomAD rs1339230290
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.91
- SIFT 0.15
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available