R28P (p.Arg28Pro) variant of SMO (Protein smoothened)
R28P (p.Arg28Pro) 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.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- Ensembl rs2150637910
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.25
- MetaLR 0.22
- MetaSVM -0.63
- CADD 21.20
- PolyPhen-2 0.15
- SIFT 0.38
- Population evidence available
- Structural context available