A8T (p.Ala8Thr) variant of B2M (Beta-2-microglobulin)
A8T (p.Ala8Thr) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- Ensembl rs369474839
- cosmic curated COSV62562
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- MetaLR 0.01
- MetaSVM -0.91
- CADD 10.30
- PolyPhen-2 0.21
- SIFT 0.44
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available