Y71H (p.Tyr71His) variant of CD3D (P04234)
Y71H (p.Tyr71His) 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 0.52 / 1. The record also includes population frequency data and structural context.
Y71H (p.Tyr71His) variant details
- p.Tyr71His
- rs377725940
- ClinGen CA229522748
- ClinVar RCV000813305
- ESP rs377725940
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available