L20P (p.Leu20Pro) variant of SMO (Protein smoothened)
L20P (p.Leu20Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- Ensembl rs2150637842
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.42
- MetaLR 0.49
- MetaSVM -0.30
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available