V78I (p.Val78Ile) variant of MFN2 (Mitofusin-2)
V78I (p.Val78Ile) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; not provided. 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.
V78I (p.Val78Ile) variant details
- p.Val78Ile
- rs764695837
- ClinGen CA598780
- cosmic curated COSV52422
- ClinVar RCV001312062
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.56
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.55
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)