Q14H (p.Gln14His) variant of TRAF3 (TNF receptor-associated factor 3)
Q14H (p.Gln14His) 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 0.12 / 1. The record also includes population frequency data and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- rs1013802030
- ClinGen CA267124521
- ClinVar RCV001038981
- ClinVar RCV005762150
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.00
- CADD 14.20
- PolyPhen-2 0.17
- SIFT 0.13
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available