P10S (p.Pro10Ser) variant of SMO (Protein smoothened)
P10S (p.Pro10Ser) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- gnomAD rs1793442706
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.29
- MetaLR 0.27
- MetaSVM -0.81
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available