P26R (p.Pro26Arg) variant of SMO (Protein smoothened)
P26R (p.Pro26Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- gnomAD 7-129189228-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.11
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available