N38D (p.Asn38Asp) variant of CD3D (P04234)
N38D (p.Asn38Asp) 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 0.08 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- rs1346172061
- ClinGen CA382789569
- ClinVar RCV001052705
- gnomAD rs1346172061
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0771
- REVEL 0.07
- CADD 3.58
- PolyPhen-2 0.03
- SIFT 0.48
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available