L534R (p.Leu534Arg) variant of OPA1 (O60313)
L534R (p.Leu534Arg) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type). The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L534R (p.Leu534Arg) variant details
- p.Leu534Arg
- rs869312995
- ClinGen CA357235
- ClinVar RCV000210746
- UniProt VAR 075904
- Pathogenic
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopath)
- EBI: Pathogenic (in MTDPS14B)
- UniProt: Pathogenic (in MTDPS14B)
- Structural context available
- Cited in: Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a… (PMID 26561570)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)