P26L (p.Pro26Leu) variant of SMO (Protein smoothened)
P26L (p.Pro26Leu) 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.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- TOPMed rs1793444191
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.96
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available