H20Y (p.His20Tyr) variant of MFN2 (Mitofusin-2)
H20Y (p.His20Tyr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease; Optic atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- rs201715603
- ClinGen CA321399
- ClinVar RCV000342413
- ClinVar RCV000556563
- Conflicting interpretations
- Inborn genetic diseases; Charcot-Marie-Tooth disease; Optic atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.75
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Charcot-Marie-Tooth disease; Optic atro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)