V69I (p.Val69Ile) variant of MFN2 (Mitofusin-2)
V69I (p.Val69Ile) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V69I (p.Val69Ile) variant details
- p.Val69Ile
- rs28940296
- ClinGen CA598775
- ClinVar RCV001096145
- ClinVar RCV001096146
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.44
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.83
- CADD 17.50
- PolyPhen-2 0.08
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory)
- EBI: Pathogenic (in CMT2A2A)
- UniProt: Pathogenic (in CMT2A2A)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)