E36Q (p.Glu36Gln) variant of B2M (Beta-2-microglobulin)
E36Q (p.Glu36Gln) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- gnomAD rs1204151497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 20.40
- PolyPhen-2 0.09
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available