R3S (p.Arg3Ser) variant of B2M (Beta-2-microglobulin)
R3S (p.Arg3Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- ExAC rs765817584
- TOPMed rs765817584
- gnomAD rs765817584
- cosmic curated COSV10527
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- MetaLR 0.00
- MetaSVM -0.91
- CADD 5.43
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available