P10L (p.Pro10Leu) variant of SMO (Protein smoothened)
P10L (p.Pro10Leu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- Ensembl rs1793442744
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.63
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available