A78E (p.Ala78Glu) variant of TRAF3 (TNF receptor-associated factor 3)
A78E (p.Ala78Glu) in TRAF3 (TNF receptor-associated factor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Herpes simplex encephalitis, susceptibility to, 3. 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.
A78E (p.Ala78Glu) variant details
- p.Ala78Glu
- cosmic curated COSV61023
- ExAC rs775556588
- TOPMed rs775556588
- gnomAD rs775556588
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.88
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available