L19Q (p.Leu19Gln) variant of SMO (Protein smoothened)
L19Q (p.Leu19Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- TOPMed rs1793443517
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.93
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available