V124M (p.Val124Met) variant of TNFRSF1A (P19438)
V124M (p.Val124Met) 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 provided; TNF receptor-associated periodic fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V124M (p.Val124Met) variant details
- p.Val124Met
- rs104895278
- ClinGen CA280843
- ClinVar RCV000083949
- ClinVar RCV000215355
- Uncertain significance
- Autoinflammatory syndrome; not provided; TNF receptor-associated periodic fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Autoinflammatory syndrome; not provided; TNF receptor-associated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- 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)