T56I (p.Thr56Ile) variant of CD3D (P04234)
T56I (p.Thr56Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- rs201422803
- ClinGen CA229522806
- ClinVar RCV002010875
- ClinVar RCV005308672
- Uncertain significance
- Immunodeficiency 19; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.18
- CADD 4.94
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 19; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)