H3Y (p.His3Tyr) variant of OPTN (Optineurin)
H3Y (p.His3Tyr) 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 0.41 / 1. The record also includes published literature.
H3Y (p.His3Tyr) variant details
- p.His3Tyr
- rs1554768243
- ClinGen CA376026936
- ClinVar RCV003781112
- ClinVar RCV006276403
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.08
- MetaLR 0.42
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.29
- ClinVar: Uncertain significance (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)