Y49C (p.Tyr49Cys) variant of MFN2 (Mitofusin-2)
Y49C (p.Tyr49Cys) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- ExAC rs754303535
- TOPMed rs754303535
- gnomAD rs754303535
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available