A6V (p.Ala6Val) variant of B2M (Beta-2-microglobulin)
A6V (p.Ala6Val) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs1162424693
- gnomAD rs1162424693
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62563
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- MetaLR 0.01
- MetaSVM -0.89
- CADD 3.18
- PolyPhen-2 0.00
- SIFT 0.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available