A7S (p.Ala7Ser) variant of SMO (Protein smoothened)
A7S (p.Ala7Ser) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 7-129189170-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.29
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available