S20R (p.Ser20Arg) variant of CD3D (P04234)
S20R (p.Ser20Arg) 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 0.09 / 1. The record also includes population frequency data and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- rs529268621
- ClinGen CA229522918
- ClinVar RCV000815198
- TOPMed rs529268621
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0903
- REVEL 0.09
- CADD 5.23
- SIFT 0.13
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available