A57V (p.Ala57Val) variant of OPTN (Optineurin)
A57V (p.Ala57Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- gnomAD 10-13110277-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.58
- CADD 26.20
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Literature evidence available