L6F (p.Leu6Phe) variant of OPTN (Optineurin)
L6F (p.Leu6Phe) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- rs747128537
- ClinGen CA5410491
- NCI-TCGA Cosmic COSV5381
- cosmic curated COSV53810
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.09
- SIFT 0.08
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)