R761H (p.Arg761His) variant of MEFV (Pyrin)
R761H (p.Arg761His) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R761H (p.Arg761His) variant details
- p.Arg761His
- rs104895097
- ClinGen CA280110
- ClinVar RCV000002658
- ClinVar RCV000217233
- Pathogenic/Likely pathogenic
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever, autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.35
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the East Asian population (allele frequency 0.0013)
- Structural context available
- Cited in: MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal… (PMID 10364520)
- Cited in: MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. (PMID 10612841)