S4N (p.Ser4Asn) variant of CD3D (P04234)
S4N (p.Ser4Asn) 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 0.32 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs1948310582
- ClinGen CA382790703
- ClinVar RCV002837900
- TOPMed rs1948310582
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 12.80
- PolyPhen-2 0.46
- SIFT 0.44
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available