P37L (p.Pro37Leu) variant of OPTN (Optineurin)
P37L (p.Pro37Leu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs571954285
- ClinGen CA5410513
- NCI-TCGA Cosmic COSV5381
- cosmic curated COSV53811
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.47
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 1.00
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)