G30A (p.Gly30Ala) variant of CD3E (P07766)
G30A (p.Gly30Ala) 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 0.32 / 1. The record also includes structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- rs202079083
- ClinGen CA382781514
- ClinVar RCV002811271
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.84
- MutPred 0.20
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available