D850Y (p.Asp850Tyr) variant of PDGFRB (P09619)
D850Y (p.Asp850Tyr) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Myofibromatosis, infantile, 1. The record also includes structural context.
D850Y (p.Asp850Tyr) variant details
- p.Asp850Tyr
- NCI-TCGA TCGA novel
- Pathogenic
- Myofibromatosis, infantile, 1
- Missense
- ClinVar: Pathogenic (Myofibromatosis, infantile, 1)
- UniProt: Pathogenic
- Structural context available