L32R (p.Leu32Arg) variant of OPTN (Optineurin)
L32R (p.Leu32Arg) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 12; Primary open angle glaucoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- TOPMed rs1439974533
- gnomAD rs1439974533
- Uncertain significance
- Amyotrophic lateral sclerosis type 12; Primary open angle glaucoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.57
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 12; Primary open angle glauco)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available