A65V (p.Ala65Val) variant of MS4A1 (B-lymphocyte antigen CD20)
A65V (p.Ala65Val) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 5; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs146626926
- ClinGen CA6024895
- ClinVar RCV001001012
- ClinVar RCV005438933
- Uncertain significance
- Immunodeficiency, common variable, 5; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -1.01
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 5; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available