P6Q (p.Pro6Gln) variant of SMO (Protein smoothened)
P6Q (p.Pro6Gln) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- gnomAD 7-129189165-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available