A11S (p.Ala11Ser) variant of B2M (Beta-2-microglobulin)
A11S (p.Ala11Ser) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IMD43. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD rs104894481
- Uncertain significance
- in IMD43
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- MetaLR 0.01
- MetaSVM -0.86
- CADD 11.50
- PolyPhen-2 0.07
- SIFT 0.44
- EBI: Variant of uncertain significance (in IMD43)
- UniProt: Uncertain significance (in IMD43)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available