F5L (p.Phe5Leu) variant of MFN2 (Mitofusin-2)
F5L (p.Phe5Leu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- TOPMed rs1222894986
- gnomAD rs1222894986
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.63
- CADD 29.90
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available