C8W (p.Cys8Trp) variant of MFN2 (Mitofusin-2)
C8W (p.Cys8Trp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C8W (p.Cys8Trp) variant details
- p.Cys8Trp
- rs752363939
- ClinGen CA598722
- ClinVar RCV003060293
- ClinVar RCV006269749
- Uncertain significance
- not specified; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.49
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)