E11G (p.Glu11Gly) variant of SMO (Protein smoothened)
E11G (p.Glu11Gly) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 7-129189183-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.29
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available