A35D (p.Ala35Asp) variant of MFN2 (Mitofusin-2)
A35D (p.Ala35Asp) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- gnomAD 1-11989272-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available