M680I (p.Met680Ile) variant of MEFV (Pyrin)
M680I (p.Met680Ile) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M680I (p.Met680Ile) variant details
- p.Met680Ile
- rs28940580
- ClinGen CA10577519
- ClinVar RCV000220209
- ClinVar RCV003605614
- Pathogenic/Likely pathogenic
- not provided; Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.35
- CADD 1.95
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial Mediterranean fever)
- EBI: Pathogenic (in ARFMF and ADFMF)
- UniProt: Pathogenic (in ARFMF and ADFMF)
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available
- Cited in: Pyrin/marenostrin mutations in familial Mediterranean fever. (PMID 10024914)
- Cited in: Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and… (PMID 10234504)