A2S (p.Ala2Ser) variant of SMO (Protein smoothened)
A2S (p.Ala2Ser) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- Ensembl rs2150637710
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- MetaLR 0.33
- MetaSVM -0.59
- CADD 25.30
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available