Q42* (p.Gln42Ter) variant of MS4A1 (B-lymphocyte antigen CD20)
Q42* (p.Gln42Ter) in MS4A1 (B-lymphocyte antigen CD20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- gnomAD 11-60462498-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 34.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available