R80H (p.Arg80His) variant of MEFV (Pyrin)
R80H (p.Arg80His) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial Mediterranean fever, autosomal dominant; Acute febrile ne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R80H (p.Arg80His) variant details
- p.Arg80His
- rs201075710
- ClinGen CA7860497
- cosmic curated COSV54824
- ClinVar RCV000781524
- Conflicting interpretations
- not provided; Familial Mediterranean fever, autosomal dominant; Acute febrile ne
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial Mediterranean fever, autosomal dominant;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)