V75I (p.Val75Ile) variant of MFN2 (Mitofusin-2)
V75I (p.Val75Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V75I (p.Val75Ile) variant details
- p.Val75Ile
- rs2522984933
- ClinGen CA338461817
- ClinVar RCV002297474
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.46
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.23
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)