F12S (p.Phe12Ser) variant of MS4A1 (B-lymphocyte antigen CD20)
F12S (p.Phe12Ser) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- ExAC rs763588373
- TOPMed rs763588373
- gnomAD rs763588373
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.01
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available