L6R (p.Leu6Arg) variant of OPTN (Optineurin)
L6R (p.Leu6Arg) 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; Amyotrophic lateral sclerosis type 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- rs1832936570
- ClinGen CA376026959
- ClinVar RCV001108752
- ClinVar RCV001108753
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.32
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)