I26T (p.Ile26Thr) variant of CD3D (P04234)
I26T (p.Ile26Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs929117843
- ClinGen CA229522883
- ClinVar RCV001347266
- TOPMed rs929117843
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.15
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available