H26N (p.His26Asn) variant of OPTN (Optineurin)
H26N (p.His26Asn) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H26N (p.His26Asn) variant details
- p.His26Asn
- rs200710076
- ClinGen CA5410503
- ClinVar RCV002710926
- ClinVar RCV004736195
- Conflicting interpretations
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.14
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- EBI: Likely benign (in GLC1E)
- UniProt: Likely benign (in GLC1E)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)