S62N (p.Ser62Asn) variant of TRAF3 (TNF receptor-associated factor 3)
S62N (p.Ser62Asn) 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 not specified; Herpes simplex encephalitis, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S62N (p.Ser62Asn) variant details
- p.Ser62Asn
- rs183443558
- ClinGen CA7359165
- ClinVar RCV001882318
- ClinVar RCV004041472
- Conflicting interpretations
- not specified; Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.99
- CADD 8.38
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available