A57T (p.Ala57Thr) variant of OPTN (Optineurin)
A57T (p.Ala57Thr) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- gnomAD 10-13110276-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- CADD 24.60
- PolyPhen-2 0.92
- SIFT 0.11
- Population evidence available
- Literature evidence available