A57A (p.Ala57Ala) variant of OPTN (Optineurin)
A57A (p.Ala57Ala) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
A57A (p.Ala57Ala) variant details
- p.Ala57Ala
- gnomAD 10-13110278-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 13.50
- Population evidence available
- Literature evidence available