L19M (p.Leu19Met) variant of SMO (Protein smoothened)
L19M (p.Leu19Met) 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.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- 1000Genomes rs551830801
- TOPMed rs551830801
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.16
- MetaLR 0.29
- MetaSVM -0.71
- CADD 19.90
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available