A11T (p.Ala11Thr) variant of B2M (Beta-2-microglobulin)
A11T (p.Ala11Thr) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 15-44711577-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- MetaLR 0.01
- MetaSVM -0.90
- CADD 13.10
- PolyPhen-2 0.04
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available