R25H (p.Arg25His) variant of TRAF3 (TNF receptor-associated factor 3)
R25H (p.Arg25His) 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 TRAF3-related disorder; Herpes simplex encephalitis, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs370955205
- ClinGen CA267124571
- ClinVar RCV001058429
- ClinVar RCV003393826
- Uncertain significance
- TRAF3-related disorder; Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.89
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.32
- ClinVar: Uncertain significance (TRAF3-related disorder; Herpes simplex encephalitis, susceptibil)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00051)
- Structural context available