A4P (p.Ala4Pro) variant of SMO (Protein smoothened)
A4P (p.Ala4Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 7-129189161-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available