S46Y (p.Ser46Tyr) variant of PDGFRA (P16234)
S46Y (p.Ser46Tyr) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The record also includes structural context.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99957
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- UniProt: Uncertain significance
- Structural context available