A166V (p.Ala166Val) variant of MFN2 (Mitofusin-2)
A166V (p.Ala166Val) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A166V (p.Ala166Val) variant details
- p.Ala166Val
- rs1557522849
- ClinGen CA338436276
- ClinVar RCV000697586
- ClinVar RCV000986242
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Cha)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)