E13V (p.Glu13Val) variant of OPTN (Optineurin)
E13V (p.Glu13Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- rs2539033411
- ClinGen CA376027005
- ClinVar RCV002838605
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- CADD 21.00
- PolyPhen-2 0.09
- SIFT 0.01
- 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 9e-07)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)