A54V (p.Ala54Val) variant of CD79B (P40259)
A54V (p.Ala54Val) in CD79B (P40259) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- ExAC rs769288902
- TOPMed rs769288902
- gnomAD rs769288902
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.26
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available