P10Q (p.Pro10Gln) variant of SMO (Protein smoothened)
P10Q (p.Pro10Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- Ensembl rs1793442744
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- MetaLR 0.27
- MetaSVM -0.78
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available