P13L (p.Pro13Leu) variant of SMO (Protein smoothened)
P13L (p.Pro13Leu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- TOPMed rs1159103336
- gnomAD rs1159103336
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -1.01
- CADD 2.10
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available