E11K (p.Glu11Lys) variant of SMO (Protein smoothened)
E11K (p.Glu11Lys) 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 and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs1410118911
- gnomAD rs1410118911
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- MetaLR 0.23
- MetaSVM -0.87
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available