L23V (p.Leu23Val) variant of SMO (Protein smoothened)
L23V (p.Leu23Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- gnomAD 7-129189218-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available