M58I (p.Met58Ile) variant of OPTN (Optineurin)
M58I (p.Met58Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
M58I (p.Met58Ile) variant details
- p.Met58Ile
- gnomAD 10-13110281-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Literature evidence available