T47M (p.Thr47Met) variant of CD3D (P04234)
T47M (p.Thr47Met) 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 0.47 / 1. The record also includes population frequency data and structural context.
T47M (p.Thr47Met) variant details
- p.Thr47Met
- rs529884894
- ClinGen CA6301985
- ClinVar RCV001901327
- 1000Genomes rs529884894
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.30
- CADD 21.10
- PolyPhen-2 0.88
- SIFT 0.15
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available