M34T (p.Met34Thr) variant of MS4A1 (B-lymphocyte antigen CD20)
M34T (p.Met34Thr) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- ExAC rs776822308
- gnomAD rs776822308
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0698
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available