L6P (p.Leu6Pro) variant of OPTN (Optineurin)
L6P (p.Leu6Pro) 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 0.50 / 1. The record also includes published literature.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs1832936570
- ClinGen CA376026958
- ClinVar RCV004499328
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.32
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)