L23P (p.Leu23Pro) variant of SMO (Protein smoothened)
L23P (p.Leu23Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 7-129189219-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.26
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available