T20I (p.Thr20Ile) variant of OPTN (Optineurin)
T20I (p.Thr20Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- gnomAD 10-13109181-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.83
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available