M1L (p.Met1Leu) variant of MEFV (Pyrin)
M1L (p.Met1Leu) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs764544998
- ClinGen CA7860555
- ClinVar RCV002633951
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- MetaLR 0.32
- MetaSVM -0.39
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)