V20A (p.Val20Ala) variant of TNFRSF1A (P19438)
V20A (p.Val20Ala) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs1254356365
- ClinGen CA383551245
- ClinVar RCV001937723
- TOPMed rs1254356365
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.59
- CADD 15.40
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS))
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)