A4S (p.Ala4Ser) variant of SMO (Protein smoothened)
A4S (p.Ala4Ser) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 7-129189161-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.26
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available