L19V (p.Leu19Val) variant of SMO (Protein smoothened)
L19V (p.Leu19Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- 1000Genomes rs551830801
- TOPMed rs551830801
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.25
- MetaSVM -0.92
- CADD 18.90
- SIFT 0.17
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available