A7V (p.Ala7Val) variant of SMO (Protein smoothened)
A7V (p.Ala7Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- TOPMed rs1317452947
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.25
- MetaLR 0.16
- MetaSVM -0.98
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available