A43V (p.Ala43Val) variant of BCL10 (B-cell lymphoma/leukemia 10)
A43V (p.Ala43Val) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- gnomAD 1-85270836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.03
- MetaSVM -1.11
- CADD 25.00
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available