I21L (p.Ile21Leu) variant of B2M (Beta-2-microglobulin)
I21L (p.Ile21Leu) 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 0.12 / 1. The record also includes population frequency data and structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- ExAC rs757230673
- TOPMed rs757230673
- gnomAD rs757230673
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available