F252L (p.Phe252Leu) variant of SMO (Protein smoothened)
F252L (p.Phe252Leu) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital hypothalamic hamartoma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F252L (p.Phe252Leu) variant details
- p.Phe252Leu
- rs1793751061
- ClinGen CA369242931
- ClinVar RCV001261987
- Ensembl rs1793751061
- Likely pathogenic
- Congenital hypothalamic hamartoma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.84
- MetaLR 0.79
- MetaSVM 0.56
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Congenital hypothalamic hamartoma syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available