R5H (p.Arg5His) variant of SMO (Protein smoothened)
R5H (p.Arg5His) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 7-129189165-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.84
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available