R33M (p.Arg33Met) variant of MS4A1 (B-lymphocyte antigen CD20)
R33M (p.Arg33Met) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R33M (p.Arg33Met) variant details
- p.Arg33Met
- ExAC rs747239876
- gnomAD rs747239876
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.06
- CADD 16.60
- PolyPhen-2 0.75
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available