P13Q (p.Pro13Gln) variant of SMO (Protein smoothened)
P13Q (p.Pro13Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- TOPMed rs1159103336
- gnomAD rs1159103336
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.29
- MetaLR 0.16
- MetaSVM -0.98
- CADD 0.88
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available