F43L (p.Phe43Leu) variant of MFN2 (Mitofusin-2)
F43L (p.Phe43Leu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- gnomAD 1-11989297-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.75
- CADD 22.70
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available