A12T (p.Ala12Thr) variant of TRAF3 (TNF receptor-associated factor 3)
A12T (p.Ala12Thr) in TRAF3 (TNF receptor-associated factor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Herpes simplex encephalitis, susceptibility to, 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs139127242
- ClinGen CA7359140
- cosmic curated COSV61026
- ClinVar RCV001057503
- Conflicting interpretations
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0748
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available