Y79C (p.Tyr79Cys) variant of CD3D (P04234)
Y79C (p.Tyr79Cys) 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 0.10 / 1. The record also includes population frequency data and structural context.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- rs2496872150
- ClinGen CA382789092
- ClinVar RCV003144718
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0957
- REVEL 0.08
- CADD 7.38
- PolyPhen-2 0.34
- SIFT 0.21
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available