C8Y (p.Cys8Tyr) variant of OPTN (Optineurin)
C8Y (p.Cys8Tyr) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- TOPMed rs762578022
- gnomAD rs762578022
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.19
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)