L12H (p.Leu12His) variant of SMO (Protein smoothened)
L12H (p.Leu12His) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- gnomAD 7-129189186-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.28
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available