G80D (p.Gly80Asp) variant of MFN2 (Mitofusin-2)
G80D (p.Gly80Asp) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- gnomAD 1-11992618-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.54
- MetaLR 0.75
- MetaSVM 0.39
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.10
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available