F12Y (p.Phe12Tyr) variant of MS4A1 (B-lymphocyte antigen CD20)
F12Y (p.Phe12Tyr) 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 specified; not provided. 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.
F12Y (p.Phe12Tyr) variant details
- p.Phe12Tyr
- rs763588373
- ClinGen CA6024850
- ClinVar RCV004335726
- ClinVar RCV005104080
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 20.70
- PolyPhen-2 0.19
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available