M23V (p.Met23Val) variant of MS4A1 (B-lymphocyte antigen CD20)
M23V (p.Met23Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
M23V (p.Met23Val) variant details
- p.Met23Val
- rs1204983091
- ClinGen CA380597728
- ClinVar RCV001917409
- TOPMed rs1204983091
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0597
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -0.99
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available