C8Y (p.Cys8Tyr) variant of MFN2 (Mitofusin-2)
C8Y (p.Cys8Tyr) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- TOPMed rs1366027878
- gnomAD rs1366027878
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available