K59E (p.Lys59Glu) variant of OPTN (Optineurin)
K59E (p.Lys59Glu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- gnomAD 10-13110282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.57
- CADD 27.40
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Literature evidence available