Q42P (p.Gln42Pro) variant of OPTN (Optineurin)
Q42P (p.Gln42Pro) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Glaucoma 1, open angle, E; Primary open angle glaucoma; Amyotrophic lateral scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q42P (p.Gln42Pro) variant details
- p.Gln42Pro
- Ensembl rs1832940129
- Uncertain significance
- Glaucoma 1, open angle, E; Primary open angle glaucoma; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.57
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Glaucoma 1, open angle, E; Primary open angle glaucoma; Amyotrop)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available