V31G (p.Val31Gly) variant of TNFRSF1A (P19438)
V31G (p.Val31Gly) 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); not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V31G (p.Val31Gly) variant details
- p.Val31Gly
- rs763940329
- ClinGen CA6405610
- ClinVar RCV000506549
- ClinVar RCV001857279
- Uncertain significance
- TNF receptor-associated periodic fever syndrome (TRAPS); not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.68
- CADD 24.30
- PolyPhen-2 0.84
- SIFT 0.04
- ClinVar: Uncertain significance (TNF receptor-associated periodic fever syndrome (TRAPS); not spe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)