V726A (p.Val726Ala) variant of MEFV (Pyrin)
V726A (p.Val726Ala) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acute febrile neutrophilic dermatosis; Familial Mediterranean fever, autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V726A (p.Val726Ala) variant details
- p.Val726Ala
- rs28940579
- ClinGen CA280095
- ClinVar RCV000002649
- ClinVar RCV000220654
- Pathogenic/Likely pathogenic
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever, autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.35
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.96
- CADD 0.32
- PolyPhen-2 0.64
- ClinVar: Pathogenic/Likely pathogenic (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the Ashkenazi Jewish population (allele frequency 0.042)
- 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)