T50S (p.Thr50Ser) variant of CD3D (P04234)
T50S (p.Thr50Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- rs1217732214
- ClinGen CA382789393
- ClinVar RCV001966803
- TOPMed rs1217732214
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.23
- CADD 0.55
- PolyPhen-2 0.02
- SIFT 0.89
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available