G26V (p.Gly26Val) variant of MS4A1 (B-lymphocyte antigen CD20)
G26V (p.Gly26Val) 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.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- rs1453889572
- ClinGen CA380597779
- ClinVar RCV002908698
- gnomAD rs1453889572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.00
- MetaLR 0.04
- MetaSVM -1.04
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available