V78L (p.Val78Leu) variant of MFN2 (Mitofusin-2)
V78L (p.Val78Leu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- gnomAD 1-11992611-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.64
- MetaLR 0.94
- MetaSVM 1.12
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available