E50K (p.Glu50Lys) variant of OPTN (Optineurin)
E50K (p.Glu50Lys) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glaucoma 1, open angle, E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs28939688
- ClinGen CA118628
- ClinVar RCV000007513
- UniProt VAR 021538
- Pathogenic
- Glaucoma 1, open angle, E
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.66
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glaucoma 1, open angle, E)
- EBI: Pathogenic (in GLC1E)
- UniProt: Pathogenic (in GLC1E)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PMID 11834836)
- Cited in: A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by… (PMID 17389490)