K59N (p.Lys59Asn) variant of OPTN (Optineurin)
K59N (p.Lys59Asn) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Primary open angle glaucoma; Glaucoma 1, open angle, E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- rs1487584331
- ClinGen CA376027318
- ClinVar RCV001998288
- ClinVar RCV002398037
- Uncertain significance
- Inborn genetic diseases; Primary open angle glaucoma; Glaucoma 1, open angle, E
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.46
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Primary open angle glaucoma; Glaucoma 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)