Y60H (p.Tyr60His) variant of MEFV (Pyrin)
Y60H (p.Tyr60His) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
Y60H (p.Tyr60His) variant details
- p.Tyr60His
- ExAC rs756753159
- TOPMed rs756753159
- gnomAD rs756753159
- Missense
- Variant Prioritization Score for Impact Estimate 0.0756
- REVEL 0.05
- CADD 3.92
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available