R3G (p.Arg3Gly) variant of B2M (Beta-2-microglobulin)
R3G (p.Arg3Gly) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- ExAC rs765817584
- TOPMed rs765817584
- gnomAD rs765817584
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- MetaLR 0.01
- MetaSVM -0.93
- CADD 9.75
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available