D296H (p.Asp296His) variant of OPA1 (O60313)
D296H (p.Asp296His) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; Autosomal dominant optic atrophy classic form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
D296H (p.Asp296His) variant details
- p.Asp296His
- rs1577228080
- ClinGen CA355788173
- ClinVar RCV000987378
- ClinVar RCV001374996
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Autosomal dominant optic atrophy classic form
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Autosomal dominant optic atrophy cl)
- EBI: Pathogenic (in MTDPS14A)
- UniProt: Pathogenic (in MTDPS14A)
- Structural context available