G53E (p.Gly53Glu) variant of MS4A1 (B-lymphocyte antigen CD20)
G53E (p.Gly53Glu) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs1210730619
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6194
- cosmic curated COSV61941
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.52
- MetaLR 0.11
- MetaSVM -0.94
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available