E11K (p.Glu11Lys) variant of OPTN (Optineurin)
E11K (p.Glu11Lys) 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; Amyotrophic lateral sclerosis type 12; Glaucoma 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- rs184878637
- cosmic curated COSV53811
- 1000Genomes rs184878637
- ExAC rs184878637
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.21
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.023)
- Structural context available