G68S (p.Gly68Ser) variant of CD3E (P07766)
G68S (p.Gly68Ser) 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; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- rs200087808
- ClinGen CA6301640
- cosmic curated COSV10820
- ClinVar RCV001040601
- Uncertain significance
- Immunodeficiency 18; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -0.95
- CADD 0.00
- PolyPhen-2 0.12
- SIFT 0.56
- ClinVar: Uncertain significance (Immunodeficiency 18; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)