N62I (p.Asn62Ile) variant of OPTN (Optineurin)
N62I (p.Asn62Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
N62I (p.Asn62Ile) variant details
- p.Asn62Ile
- gnomAD 10-13110292-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Literature evidence available