L14H (p.Leu14His) variant of SMO (Protein smoothened)
L14H (p.Leu14His) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L14H (p.Leu14His) variant details
- p.Leu14His
- gnomAD 7-129189192-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.16
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available