L47P (p.Leu47Pro) variant of OPTN (Optineurin)
L47P (p.Leu47Pro) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- gnomAD 10-13109262-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.72
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available