A78V (p.Ala78Val) variant of TRAF3 (TNF receptor-associated factor 3)
A78V (p.Ala78Val) 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 not specified; 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.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- rs775556588
- ClinGen CA7359172
- ClinVar RCV001919378
- ClinVar RCV004877718
- Uncertain significance
- not specified; Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.88
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified; Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available