E85D (p.Glu85Asp) variant of TNFRSF1A (P19438)
E85D (p.Glu85Asp) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- rs770439546
- ClinGen CA6405583
- ClinVar RCV000685835
- ExAC rs770439546
- Likely benign
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.80
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Likely benign (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)
- Cited in: ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the… (PMID 32176780)