E36K (p.Glu36Lys) variant of B2M (Beta-2-microglobulin)
E36K (p.Glu36Lys) 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 0.71 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs1204151497
- gnomAD rs1204151497
- ClinGen CA392232655
- ClinVar RCV002020729
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.05
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available