I55L (p.Ile55Leu) variant of CD3D (P04234)
I55L (p.Ile55Leu) 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 0.07 / 1. The record also includes population frequency data and structural context.
I55L (p.Ile55Leu) variant details
- p.Ile55Leu
- rs1313114791
- ClinGen CA382789334
- ClinVar RCV001863880
- TOPMed rs1313114791
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0726
- REVEL 0.09
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available