G67E (p.Gly67Glu) variant of OPTN (Optineurin)
G67E (p.Gly67Glu) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs959069574
- ClinGen CA203255155
- ClinVar RCV003069701
- TOPMed rs959069574
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.24
- CADD 22.50
- PolyPhen-2 0.64
- SIFT 1.00
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)