T449R (p.Thr449Arg) variant of OPA1 (O60313)
T449R (p.Thr449Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
T449R (p.Thr449Arg) variant details
- p.Thr449Arg
- rs1577244261
- ClinGen CA355789759
- ClinVar RCV000987381
- ClinVar RCV002549677
- Pathogenic
- not provided; Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 0.03
- SIFT 0.02
- EVE 0.89
- ClinVar: Pathogenic (not provided; Autosomal dominant optic atrophy classic form)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- 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: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)