R42Q (p.Arg42Gln) variant of MEFV (Pyrin)
R42Q (p.Arg42Gln) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- cosmic curated COSV54826
- ExAC rs773202425
- TOPMed rs773202425
- gnomAD rs773202425
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.22
- CADD 20.10
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available