L12P (p.Leu12Pro) variant of SMO (Protein smoothened)
L12P (p.Leu12Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 7-129189186-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available