I21V (p.Ile21Val) variant of B2M (Beta-2-microglobulin)
I21V (p.Ile21Val) 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 0.08 / 1. The record also includes population frequency data and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- rs757230673
- ExAC rs757230673
- TOPMed rs757230673
- gnomAD rs757230673
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0791
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available