K82E (p.Lys82Glu) variant of CD3D (P04234)
K82E (p.Lys82Glu) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
K82E (p.Lys82Glu) variant details
- p.Lys82Glu
- rs1555119773
- ClinGen CA382789071
- ClinVar RCV000651984
- ClinVar RCV005306115
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0375
- REVEL 0.02
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)