L19P (p.Leu19Pro) variant of SMO (Protein smoothened)
L19P (p.Leu19Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 7-129189207-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available