T76I (p.Thr76Ile) variant of CD3D (P04234)
T76I (p.Thr76Ile) in CD3D (P04234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- TOPMed rs1289724465
- gnomAD rs1289724465
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0827
- REVEL 0.04
- CADD 11.60
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available