G39S (p.Gly39Ser) variant of MS4A1 (B-lymphocyte antigen CD20)
G39S (p.Gly39Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- rs1322248141
- ClinGen CA380597954
- ClinVar RCV002740050
- TOPMed rs1322248141
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.51
- SIFT 0.16
- 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