R25C (p.Arg25Cys) variant of TRAF3 (TNF receptor-associated factor 3)
R25C (p.Arg25Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs1293923229
- ClinGen CA391069641
- cosmic curated COSV10590
- ClinVar RCV001350295
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.77
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.07
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available