R68G (p.Arg68Gly) variant of CD3D (P04234)
R68G (p.Arg68Gly) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- rs111033580
- ClinGen CA382789181
- ClinVar RCV002046200
- ESP rs111033580
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available