M1K (p.Met1Lys) variant of OPTN (Optineurin)
M1K (p.Met1Lys) 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; Glaucoma 1. The record also includes variant effect predictions, population frequency data, and published literature.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs946553408
- ClinGen CA203254115
- ClinVar RCV003806665
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)