L48R (p.Leu48Arg) variant of OPTN (Optineurin)
L48R (p.Leu48Arg) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- gnomAD rs1832940696
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.57
- CADD 27.20
- ClinVar: Uncertain significance (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available