C551Y (p.Cys551Tyr) variant of OPA1 (O60313)
C551Y (p.Cys551Tyr) 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 0.87 / 1. The record also includes published literature and structural context.
C551Y (p.Cys551Tyr) variant details
- p.Cys551Tyr
- rs879255592
- ClinGen CA10576004
- ClinVar RCV000210742
- UniProt VAR 060851
- Pathogenic
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic (Optic atrophy with or without deafness, ophthalmoplegia, myopath)
- EBI: Pathogenic (in OPA1 and DOA+)
- UniProt: Pathogenic (in OPA1 and DOA+)
- Structural context available
- Cited in: Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PMID 19319978)
- Cited in: Heterozygous OPA1 mutations in Behr syndrome. (PMID 21112924)