L12F (p.Leu12Phe) variant of SMO (Protein smoothened)
L12F (p.Leu12Phe) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- Ensembl rs2150637773
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.33
- MetaLR 0.24
- MetaSVM -0.62
- CADD 16.20
- PolyPhen-2 0.21
- SIFT 0.02
- Population evidence available
- Structural context available