E56V (p.Glu56Val) variant of OPTN (Optineurin)
E56V (p.Glu56Val) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data.
E56V (p.Glu56Val) variant details
- p.Glu56Val
- gnomAD rs750177059
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.69
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)