S2C (p.Ser2Cys) variant of B2M (Beta-2-microglobulin)
S2C (p.Ser2Cys) 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 0.30 / 1. The record also includes population frequency data and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- ESP rs368160918
- ExAC rs368160918
- TOPMed rs368160918
- gnomAD rs368160918
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- MetaLR 0.00
- MetaSVM -0.82
- CADD 17.80
- PolyPhen-2 0.44
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available