H95Y (p.His95Tyr) variant of TNFRSF1A (P19438)
H95Y (p.His95Tyr) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H95Y (p.His95Tyr) variant details
- p.His95Tyr
- rs104895290
- ClinGen CA280803
- ClinVar RCV000083935
- ClinVar RCV003480056
- Uncertain significance
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.53
- CADD 3.17
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00016)
- 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)