G53R (p.Gly53Arg) variant of MS4A1 (B-lymphocyte antigen CD20)
G53R (p.Gly53Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs2086256871
- ClinGen CA380598230
- ClinVar RCV002976169
- TOPMed rs2086256871
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.56
- MetaLR 0.12
- MetaSVM -0.84
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available