N74T (p.Asn74Thr) variant of CD3E (P07766)
N74T (p.Asn74Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
N74T (p.Asn74Thr) variant details
- p.Asn74Thr
- rs1948142751
- ClinGen CA382782310
- ClinVar RCV001334564
- Ensembl rs1948142751
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.91
- CADD 4.85
- PolyPhen-2 0.73
- SIFT 0.64
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available