R3H (p.Arg3His) variant of B2M (Beta-2-microglobulin)
R3H (p.Arg3His) 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 0.16 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs1046534954
- ClinGen CA270114323
- cosmic curated COSV62564
- ClinVar RCV002593234
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- MetaLR 0.01
- MetaSVM -1.05
- CADD 10.70
- PolyPhen-2 0.45
- SIFT 0.10
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available