E38G (p.Glu38Gly) variant of OPTN (Optineurin)
E38G (p.Glu38Gly) 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 0.56 / 1. The record also includes published literature and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- rs1832939717
- ClinGen CA376027161
- ClinVar RCV002451737
- Ensembl rs1832939717
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.16
- MetaLR 0.61
- MetaSVM 0.28
- PolyPhen-2 0.57
- SIFT 0.01
- EVE 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)