S2F (p.Ser2Phe) variant of B2M (Beta-2-microglobulin)
S2F (p.Ser2Phe) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoproteinemia, hypercatabolic. 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.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs368160918
- ESP rs368160918
- ExAC rs368160918
- TOPMed rs368160918
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- MetaLR 0.00
- MetaSVM -0.81
- CADD 18.30
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available