P5R (p.Pro5Arg) variant of OPTN (Optineurin)
P5R (p.Pro5Arg) 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 0.49 / 1. The record also includes population frequency data and published literature.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs1564354765
- ClinGen CA376026953
- ClinVar RCV000684859
- Ensembl rs1564354765
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.89
- SIFT 0.00
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)