L939P (p.Leu939Pro) variant of OPA1 (O60313)
L939P (p.Leu939Pro) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Optic atrophy. The record also includes published literature and structural context.
L939P (p.Leu939Pro) variant details
- p.Leu939Pro
- UniProt VAR 028370
- Likely pathogenic
- Optic atrophy
- Missense
- ClinVar: Likely pathogenic (Optic atrophy)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: Mutation spectrum and splicing variants in the OPA1 gene. (PMID 11810270)
- Cited in: OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane… (PMID 20185555)