A64A (p.Ala64Ala) variant of OPTN (Optineurin)
A64A (p.Ala64Ala) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
A64A (p.Ala64Ala) variant details
- p.Ala64Ala
- gnomAD 10-13110299-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.53
- Population evidence available
- Literature evidence available