S25Y (p.Ser25Tyr) variant of MS4A1 (B-lymphocyte antigen CD20)
S25Y (p.Ser25Tyr) 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 0.24 / 1. The record also includes population frequency data and structural context.
S25Y (p.Ser25Tyr) variant details
- p.Ser25Tyr
- rs2495398726
- ClinGen CA380597762
- ClinVar RCV002634960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.10
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available