S545R (p.Ser545Arg) variant of OPA1 (O60313)
S545R (p.Ser545Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Optic atrophy; Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S545R (p.Ser545Arg) variant details
- p.Ser545Arg
- rs398124298
- ClinGen CA223205
- ClinVar RCV000175211
- ClinVar RCV004529860
- Pathogenic
- not provided; Optic atrophy; Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (not provided; Optic atrophy; Autosomal dominant optic atrophy cl)
- EBI: Pathogenic (in DOA+ and OPA1)
- UniProt: Pathogenic (in DOA+ and OPA1)
- Structural context available
- Cited in: Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. (PMID 16513463)
- Cited in: Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple… (PMID 18065439)