L12I (p.Leu12Ile) variant of SMO (Protein smoothened)
L12I (p.Leu12Ile) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 7-129189185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.28
- CADD 14.10
- PolyPhen-2 0.09
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available