R63C (p.Arg63Cys) variant of CD3D (P04234)
R63C (p.Arg63Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs149264725
- ClinGen CA6301979
- cosmic curated COSV52675
- ClinVar RCV001320462
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.20
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available