K80R (p.Lys80Arg) variant of CD3D (P04234)
K80R (p.Lys80Arg) 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.
K80R (p.Lys80Arg) variant details
- p.Lys80Arg
- rs1948288932
- ClinGen CA382789084
- ClinVar RCV002302997
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0557
- REVEL 0.04
- CADD 2.21
- PolyPhen-2 0.03
- SIFT 0.33
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available