V47M (p.Val47Met) variant of TRAF3 (TNF receptor-associated factor 3)
V47M (p.Val47Met) 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 0.45 / 1. The record also includes population frequency data and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- rs755721963
- ClinGen CA7359162
- NCI-TCGA Cosmic COSV6102
- cosmic curated COSV61026
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.27
- MetaLR 0.45
- MetaSVM -0.15
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.22
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available