E83K (p.Glu83Lys) variant of CD3D (P04234)
E83K (p.Glu83Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs201889742
- ClinGen CA229522683
- ClinVar RCV001044691
- Ensembl rs201889742
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0601
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (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