T20K (p.Thr20Lys) variant of OPTN (Optineurin)
T20K (p.Thr20Lys) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T20K (p.Thr20Lys) variant details
- p.Thr20Lys
- gnomAD 10-13109181-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.29
- CADD 21.20
- PolyPhen-2 0.69
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available