L14F (p.Leu14Phe) variant of SMO (Protein smoothened)
L14F (p.Leu14Phe) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- TOPMed rs916719717
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.83
- CADD 15.20
- PolyPhen-2 0.08
- SIFT 0.16
- Population evidence available
- Structural context available