A7P (p.Ala7Pro) variant of SMO (Protein smoothened)
A7P (p.Ala7Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD 7-129189170-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.37
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available