R8L (p.Arg8Leu) variant of SMO (Protein smoothened)
R8L (p.Arg8Leu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 7-129189174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available