D59Y (p.Asp59Tyr) variant of MFN2 (Mitofusin-2)
D59Y (p.Asp59Tyr) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D59Y (p.Asp59Tyr) variant details
- p.Asp59Tyr
- rs1311434220
- ClinGen CA338460247
- ClinVar RCV000796483
- TOPMed rs1311434220
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.61
- CADD 33.00
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)