R23C (p.Arg23Cys) variant of B2M (Beta-2-microglobulin)
R23C (p.Arg23Cys) 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 Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic. The record also includes structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- Ensembl rs2141284688
- Uncertain significance
- Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- Missense
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available