P10T (p.Pro10Thr) variant of SMO (Protein smoothened)
P10T (p.Pro10Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD rs1793442706
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.81
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available