M72I (p.Met72Ile) variant of BCOR (BCL-6 corepressor)
M72I (p.Met72Ile) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M72I (p.Met72Ile) variant details
- p.Met72Ile
- Ensembl rs2147281408
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.94
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available