P560L (p.Pro560Leu) variant of PDGFRB (P09619)
P560L (p.Pro560Leu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acroosteolysis-keloid-like lesions-premature aging syndrome; Skeletal overgrowth. The record also includes published literature and structural context.
P560L (p.Pro560Leu) variant details
- p.Pro560Leu
- rs2481203941
- ClinGen CA361766400
- ClinVar RCV003781038
- ClinVar RCV004719391
- Pathogenic/Likely pathogenic
- Acroosteolysis-keloid-like lesions-premature aging syndrome; Skeletal overgrowth
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Acroosteolysis-keloid-like lesions-premature aging syndrome; Ske)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)