A8S (p.Ala8Ser) variant of B2M (Beta-2-microglobulin)
A8S (p.Ala8Ser) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- Ensembl rs369474839
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- MetaLR 0.01
- MetaSVM -0.91
- CADD 8.94
- PolyPhen-2 0.28
- SIFT 0.47
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available