R28Q (p.Arg28Gln) variant of SMO (Protein smoothened)
R28Q (p.Arg28Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- Ensembl rs2150637910
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.91
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available