A54V (p.Ala54Val) variant of MS4A1 (B-lymphocyte antigen CD20)
A54V (p.Ala54Val) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD rs1186650634
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- MetaLR 0.02
- MetaSVM -1.08
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available