I78T (p.Ile78Thr) variant of CD3D (P04234)
I78T (p.Ile78Thr) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- rs528486045
- ClinGen CA6301968
- ClinVar RCV002577607
- ClinVar RCV004064477
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0551
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)