L13Q (p.Leu13Gln) variant of MEFV (Pyrin)
L13Q (p.Leu13Gln) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- rs1596360011
- ClinGen CA394485619
- ClinVar RCV002366404
- TOPMed rs1596360011
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.93
- MetaLR 0.68
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)