Q33H (p.Gln33His) variant of CD3E (P07766)
Q33H (p.Gln33His) 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 0.11 / 1. The record also includes population frequency data and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- rs1948139036
- ClinGen CA382781555
- ClinVar RCV001345315
- TOPMed rs1948139036
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.02
- CADD 7.45
- PolyPhen-2 0.12
- SIFT 0.27
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available