V12L (p.Val12Leu) variant of MFN2 (Mitofusin-2)
V12L (p.Val12Leu) in MFN2 (Mitofusin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ESP rs367715413
- ExAC rs367715413
- TOPMed rs367715413
- gnomAD rs367715413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available