S46F (p.Ser46Phe) variant of PDGFRA (P16234)
S46F (p.Ser46Phe) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- Ensembl rs777307941
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available