V5M (p.Val5Met) variant of B2M (Beta-2-microglobulin)
V5M (p.Val5Met) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- cosmic curated COSV62565
- gnomAD rs1183112448
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- MetaLR 0.01
- MetaSVM -0.96
- CADD 8.72
- PolyPhen-2 0.41
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available