R3C (p.Arg3Cys) variant of B2M (Beta-2-microglobulin)
R3C (p.Arg3Cys) 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 0.20 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs765817584
- ClinGen CA7536257
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62562
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- MetaLR 0.01
- MetaSVM -0.96
- CADD 18.00
- PolyPhen-2 0.55
- SIFT 0.03
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available