L42P (p.Leu42Pro) variant of PDGFRB (P09619)
L42P (p.Leu42Pro) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of PDGFRB-related disorder. The record also includes structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- Ensembl rs2113912688
- Uncertain significance
- PDGFRB-related disorder
- Missense
- ClinVar: Uncertain significance (PDGFRB-related disorder)
- UniProt: Uncertain significance
- Structural context available