L412F (p.Leu412Phe) variant of SMO (Protein smoothened)
L412F (p.Leu412Phe) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Curry-Jones syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L412F (p.Leu412Phe) variant details
- p.Leu412Phe
- rs879255280
- ClinGen CA10584652
- ClinVar RCV000236033
- ClinVar RCV005647989
- Pathogenic
- Curry-Jones syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.83
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.69
- ClinVar: Pathogenic (Curry-Jones syndrome)
- EBI: Pathogenic (in CRJS)
- UniProt: Pathogenic (in CRJS)
- Structural context available
- Cited in: Mild case of Curry-Jones syndrome. (PMID 16531740)
- Cited in: Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the… (PMID 18798318)