D438G (p.Asp438Gly) variant of OPA1 (O60313)
D438G (p.Asp438Gly) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant optic atrophy classic form; Optic atrophy with or without dea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
D438G (p.Asp438Gly) variant details
- p.Asp438Gly
- rs1734162973
- ClinVar RCV004587650
- ClinVar RCV004817634
- ClinVar RCV006489002
- Pathogenic/Likely pathogenic
- Autosomal dominant optic atrophy classic form; Optic atrophy with or without dea
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant optic atrophy classic form; Optic atrophy wit)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available