Y582C (p.Tyr582Cys) variant of OPA1 (O60313)
Y582C (p.Tyr582Cys) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y582C (p.Tyr582Cys) variant details
- p.Tyr582Cys
- rs121908376
- ClinGen CA117252
- ClinVar RCV000005395
- UniProt VAR 060853
- Pathogenic
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.89
- MetaLR 0.85
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Optic atrophy with or without deafness, ophthalmoplegia, myopath)
- EBI: Pathogenic (in DOA+)
- UniProt: Pathogenic (in DOA+)
- Population evidence available
- Structural context available
- Cited in: Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. (PMID 18195150)
- Cited in: Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense… (PMID 15531309)