P13A (p.Pro13Ala) variant of SMO (Protein smoothened)
P13A (p.Pro13Ala) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- gnomAD 7-129189188-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.21
- CADD 7.18
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available