E65D (p.Glu65Asp) variant of MFN2 (Mitofusin-2)
E65D (p.Glu65Asp) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E65D (p.Glu65Asp) variant details
- p.Glu65Asp
- rs1297357606
- ClinGen CA338461620
- ClinVar RCV001885439
- ClinVar RCV004734293
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.52
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)