G26E (p.Gly26Glu) variant of OPA1 (O60313)
G26E (p.Gly26Glu) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- rs1473275837
- ClinGen CA355786457
- ClinVar RCV001938179
- TOPMed rs1473275837
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available