F552L (p.Phe552Leu) variant of OPA1 (O60313)
F552L (p.Phe552Leu) 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 0.82 / 1. The record also includes structural context.
F552L (p.Phe552Leu) variant details
- p.Phe552Leu
- rs1560380226
- ClinGen CA355790483
- ClinVar RCV000762130
- ClinVar RCV005621019
- Pathogenic
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Optic atrophy with or without deafness, ophthalmoplegia, myopath)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available