V73I (p.Val73Ile) variant of MEFV (Pyrin)
V73I (p.Val73Ile) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V73I (p.Val73Ile) variant details
- p.Val73Ile
- rs2141679452
- ClinGen CA394483682
- ClinVar RCV001374650
- Ensembl rs2141679452
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.62
- SIFT 0.41
- MutPred 0.47
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)