A64V (p.Ala64Val) variant of OPTN (Optineurin)
A64V (p.Ala64Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- gnomAD 10-13110298-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Literature evidence available