P13S (p.Pro13Ser) variant of SMO (Protein smoothened)
P13S (p.Pro13Ser) 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.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- Ensembl rs2150637777
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.99
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available