L15P (p.Leu15Pro) variant of SMO (Protein smoothened)
L15P (p.Leu15Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- gnomAD 7-129189195-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available