A11P (p.Ala11Pro) variant of B2M (Beta-2-microglobulin)
A11P (p.Ala11Pro) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- rs104894481
- ClinGen CA251327
- ClinVar RCV000019314
- UniProt VAR 030660
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- MetaLR 0.01
- MetaSVM -0.94
- CADD 14.60
- PolyPhen-2 0.41
- SIFT 0.22
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Pathogenic (in IMD43)
- UniProt: Pathogenic (in IMD43)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant… (PMID 16549777)
- Cited in: Disorders of immunoglobulin metabolism. (PMID 4186801)