p.Gly16 Leu17insArg variant of SMO (Protein smoothened)

Name: SMO p.Gly16 Leu17insArg variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Gly16 Leu17insArg in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.

p.Gly16 Leu17insArg variant details

gnomAD 7-129189197-G-GGG
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.314
CADD 20.70
Most common in the Non-Finnish European population (allele frequency 1.2e-06)
Structural context available
Literature evidence available