I40T (p.Ile40Thr) variant of CD3E (P07766)
I40T (p.Ile40Thr) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- rs2134766495
- ClinGen CA382781729
- ClinVar RCV001913962
- Ensembl rs2134766495
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.98
- MetaLR 0.30
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available