p.Gly9 Pro10del variant of SMO (Protein smoothened)
p.Gly9 Pro10del in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly9 Pro10del variant details
- gnomAD 7-129189174-GGGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available