R42W (p.Arg42Trp) variant of MEFV (Pyrin)
R42W (p.Arg42Trp) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoinflammatory syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs61754767
- ClinGen CA7860530
- ClinVar RCV000632798
- ClinVar RCV000757453
- Conflicting interpretations
- Autoinflammatory syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.24
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; not specified; not provided)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available
- Cited in: The spectrum of Familial Mediterranean Fever (FMF) mutations. (PMID 11464238)
- Cited in: Familial Mediterranean Fever. (PMID 20301405)