A4T (p.Ala4Thr) variant of SMO (Protein smoothened)
A4T (p.Ala4Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 7-129189161-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available