E519K (p.Glu519Lys) variant of OPA1 (O60313)
E519K (p.Glu519Lys) 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 with or without deafness, ophthalmoplegia, myopathy, ataxia, and n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
E519K (p.Glu519Lys) variant details
- p.Glu519Lys
- rs2109058910
- ClinGen CA355790251
- ClinVar RCV001822915
- Ensembl rs2109058910
- Likely pathogenic
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and n
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Optic atrophy with or without deafness, ophthalmoplegia, myopath)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available