K45Q (p.Lys45Gln) variant of OPTN (Optineurin)
K45Q (p.Lys45Gln) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K45Q (p.Lys45Gln) variant details
- p.Lys45Gln
- gnomAD 10-13109255-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available