A41T (p.Ala41Thr) variant of BCOR (BCL-6 corepressor)
A41T (p.Ala41Thr) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- TOPMed rs1213731329
- gnomAD rs1213731329
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available