P13R (p.Pro13Arg) variant of SMO (Protein smoothened)
P13R (p.Pro13Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- TOPMed rs1159103336
- gnomAD rs1159103336
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.28
- MetaLR 0.16
- MetaSVM -0.97
- CADD 0.72
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available