Y19F (p.Tyr19Phe) variant of MEFV (Pyrin)
Y19F (p.Tyr19Phe) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y19F (p.Tyr19Phe) variant details
- p.Tyr19Phe
- ExAC rs769605806
- TOPMed rs769605806
- gnomAD rs769605806
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available