G17D (p.Gly17Asp) variant of B2M (Beta-2-microglobulin)
G17D (p.Gly17Asp) 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 0.29 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs1196771735
- TOPMed rs1196771735
- gnomAD rs1196771735
- ClinGen CA392232217
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- MetaLR 0.01
- MetaSVM -0.96
- CADD 21.70
- PolyPhen-2 0.92
- SIFT 0.08
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available