Y60N (p.Tyr60Asn) variant of MEFV (Pyrin)
Y60N (p.Tyr60Asn) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y60N (p.Tyr60Asn) variant details
- p.Tyr60Asn
- ExAC rs756753159
- TOPMed rs756753159
- gnomAD rs756753159
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- CADD 15.50
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available