T29M (p.Thr29Met) variant of TRAF3 (TNF receptor-associated factor 3)
T29M (p.Thr29Met) 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 not provided; Herpes simplex encephalitis, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T29M (p.Thr29Met) variant details
- p.Thr29Met
- rs547180445
- ClinGen CA7359154
- NCI-TCGA Cosmic COSV6102
- cosmic curated COSV61025
- Uncertain significance
- not provided; Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.07
- CADD 12.70
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available