I429F (p.Ile429Phe) variant of SMO (Protein smoothened)
I429F (p.Ile429Phe) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hypothalamic hamartoma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
I429F (p.Ile429Phe) variant details
- p.Ile429Phe
- rs1793814652
- ClinGen CA369244963
- ClinVar RCV001251444
- Ensembl rs1793814652
- Pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.93
- MetaLR 0.78
- MetaSVM 0.74
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.73
- ClinVar: Pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog… (PMID 32413283)