R32C (p.Arg32Cys) variant of B2M (Beta-2-microglobulin)
R32C (p.Arg32Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs11553032
- gnomAD rs11553032
- ClinGen CA270116950
- ClinVar RCV002824765
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available