L18P (p.Leu18Pro) variant of SMO (Protein smoothened)
L18P (p.Leu18Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- Ensembl rs2150637825
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- MetaLR 0.39
- MetaSVM -0.26
- CADD 25.30
- PolyPhen-2 0.48
- SIFT 0.19
- Population evidence available
- Structural context available