S39Y (p.Ser39Tyr) variant of CD3E (P07766)
S39Y (p.Ser39Tyr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S39Y (p.Ser39Tyr) variant details
- p.Ser39Tyr
- rs369130631
- ClinGen CA6301628
- ClinVar RCV001963801
- ClinVar RCV004044568
- Uncertain significance
- Immunodeficiency 18; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.72
- CADD 22.40
- PolyPhen-2 0.36
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 18; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)