E73D (p.Glu73Asp) variant of MFN2 (Mitofusin-2)
E73D (p.Glu73Asp) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E73D (p.Glu73Asp) variant details
- p.Glu73Asp
- gnomAD 1-11992598-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.44
- MetaLR 0.90
- MetaSVM 0.45
- CADD 13.70
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available