G53G (p.Gly53Gly) variant of MS4A1 (B-lymphocyte antigen CD20)
G53G (p.Gly53Gly) in MS4A1 (B-lymphocyte antigen CD20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- rs2086256930
- gnomAD 11-60462533-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 19.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available