S2Y (p.Ser2Tyr) variant of B2M (Beta-2-microglobulin)
S2Y (p.Ser2Tyr) in B2M (Beta-2-microglobulin) 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 0.31 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- ESP rs368160918
- ExAC rs368160918
- TOPMed rs368160918
- gnomAD rs368160918
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- MetaLR 0.01
- MetaSVM -0.82
- CADD 20.70
- PolyPhen-2 0.46
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available