A11V (p.Ala11Val) variant of B2M (Beta-2-microglobulin)
A11V (p.Ala11Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- TOPMed rs1440025860
- gnomAD rs1440025860
- Uncertain significance
- Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- MetaLR 0.00
- MetaSVM -0.93
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabo)
- EBI: Variant of uncertain significance (in IMD43)
- UniProt: Uncertain significance (in IMD43)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available