G30S (p.Gly30Ser) variant of CD3E (P07766)
G30S (p.Gly30Ser) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Immunodeficiency 18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs773135734
- ClinGen CA6301610
- ClinVar RCV001930591
- ClinVar RCV003365553
- Conflicting interpretations
- Inborn genetic diseases; Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.00
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Immunodeficiency 18)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)