I78V (p.Ile78Val) variant of BCOR (BCL-6 corepressor)
I78V (p.Ile78Val) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- TOPMed rs920090586
- gnomAD rs920090586
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.06
- CADD 15.80
- PolyPhen-2 0.10
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available