D71N (p.Asp71Asn) variant of CD3E (P07766)
D71N (p.Asp71Asn) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18. 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.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- rs148647954
- ClinGen CA6301643
- ClinVar RCV002049849
- 1000Genomes rs148647954
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.0796
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available