P6L (p.Pro6Leu) variant of SMO (Protein smoothened)
P6L (p.Pro6Leu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- gnomAD rs1793442461
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.97
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available