V6M (p.Val6Met) variant of TNFRSF1A (P19438)
V6M (p.Val6Met) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- rs772424047
- ClinGen CA6405644
- ClinVar RCV000657858
- ClinVar RCV001855361
- Conflicting interpretations
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.49
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)