H26P (p.His26Pro) variant of OPTN (Optineurin)
H26P (p.His26Pro) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
H26P (p.His26Pro) variant details
- p.His26Pro
- rs1832938469
- ClinGen CA376027086
- ClinVar RCV002409891
- TOPMed rs1832938469
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.06
- MetaLR 0.32
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in GLC1E)
- UniProt: Uncertain significance (in GLC1E)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)