S17N (p.Ser17Asn) variant of OPTN (Optineurin)
S17N (p.Ser17Asn) 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; Glaucoma 1, open angle, E; Amyotrophic lateral scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- rs775446537
- ClinGen CA376027031
- ClinVar RCV003083441
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)