E11D (p.Glu11Asp) variant of SMO (Protein smoothened)
E11D (p.Glu11Asp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD rs1390945946
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.33
- MetaLR 0.27
- MetaSVM -0.80
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available