P26Q (p.Pro26Gln) variant of SMO (Protein smoothened)
P26Q (p.Pro26Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- TOPMed rs1793444191
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.98
- CADD 17.30
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available