L15L (p.Leu15Leu) variant of SMO (Protein smoothened)
L15L (p.Leu15Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L15L (p.Leu15Leu) variant details
- p.Leu15Leu
- rs2150637798
- gnomAD 7-129189194-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.09
- MetaLR 0.27
- MetaSVM -0.89
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available