T41M (p.Thr41Met) variant of MS4A1 (B-lymphocyte antigen CD20)
T41M (p.Thr41Met) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T41M (p.Thr41Met) variant details
- p.Thr41Met
- rs147754874
- ClinGen CA6024870
- cosmic curated COSV61942
- ClinVar RCV001955333
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.97
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available