Q24* (p.Gln24Ter) variant of MS4A1 (B-lymphocyte antigen CD20)
Q24* (p.Gln24Ter) in MS4A1 (B-lymphocyte antigen CD20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs201354938
- ClinGen CA6024860
- ClinVar RCV002962782
- 1000Genomes rs201354938
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 31.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available