N61I (p.Asn61Ile) variant of OPTN (Optineurin)
N61I (p.Asn61Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
N61I (p.Asn61Ile) variant details
- p.Asn61Ile
- gnomAD 10-13110289-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.51
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Literature evidence available