C8S (p.Cys8Ser) variant of OPTN (Optineurin)
C8S (p.Cys8Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
C8S (p.Cys8Ser) variant details
- p.Cys8Ser
- gnomAD 10-13109144-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.13
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.17
- Population evidence available
- Literature evidence available