L17Q (p.Leu17Gln) variant of SMO (Protein smoothened)
L17Q (p.Leu17Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD 7-129189201-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available