H26D (p.His26Asp) variant of OPTN (Optineurin)
H26D (p.His26Asp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H26D (p.His26Asp) variant details
- p.His26Asp
- rs200710076
- ClinGen CA5410505
- cosmic curated COSV99036
- ClinVar RCV002645705
- Uncertain significance
- Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.54
- CADD 0.24
- PolyPhen-2 0.04
- SIFT 0.45
- ClinVar: Uncertain significance (Primary open angle glaucoma; Amyotrophic lateral sclerosis type)
- EBI: Pathogenic (in GLC1E)
- UniProt: Pathogenic (in GLC1E)
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available
- Cited in: Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese… (PMID 15226658)
- Cited in: Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients. (PMID 15370540)