R25L (p.Arg25Leu) variant of TRAF3 (TNF receptor-associated factor 3)
R25L (p.Arg25Leu) in TRAF3 (TNF receptor-associated factor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Herpes simplex encephalitis, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs370955205
- ClinGen CA7359151
- cosmic curated COSV10069
- ClinVar RCV001070062
- Likely benign
- Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- MetaLR 0.13
- MetaSVM -0.94
- CADD 22.80
- PolyPhen-2 0.76
- SIFT 0.27
- ClinVar: Likely benign (Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available