S319F (p.Ser319Phe) variant of FTO (Q9C0B1)
S319F (p.Ser319Phe) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lethal polymalformative syndrome, Boissel type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S319F (p.Ser319Phe) variant details
- p.Ser319Phe
- rs781028867
- ClinGen CA248803
- ClinVar RCV000190415
- UniProt VAR 075468
- Pathogenic
- Lethal polymalformative syndrome, Boissel type
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.69
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Lethal polymalformative syndrome, Boissel type)
- EBI: Pathogenic (in GDFD)
- UniProt: Pathogenic (in GDFD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple… (PMID 19559399)
- Cited in: Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and… (PMID 26378117)