D31N (p.Asp31Asn) variant of CD3D (P04234)
D31N (p.Asp31Asn) 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 0.45 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs1191172324
- ClinGen CA382789706
- ClinVar RCV001986602
- TOPMed rs1191172324
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.29
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.10
- 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