V112M (p.Val112Met) variant of TNFRSF1A (P19438)
V112M (p.Val112Met) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V112M (p.Val112Met) variant details
- p.Val112Met
- rs201753543
- ClinGen CA6405565
- ClinVar RCV000756795
- ClinVar RCV000823924
- Uncertain significance
- Autoinflammatory syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.59
- CADD 22.40
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Autoinflammatory syndrome; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)