T14S (p.Thr14Ser) variant of CD3D (P04234)
T14S (p.Thr14Ser) 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.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- rs200847716
- ClinGen CA382790557
- ClinVar RCV002022756
- ExAC rs200847716
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- REVEL 0.02
- CADD 9.19
- PolyPhen-2 0.00
- SIFT 0.13
- 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