P584R (p.Pro584Arg) variant of PDGFRB (P09619)
P584R (p.Pro584Arg) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P584R (p.Pro584Arg) variant details
- p.Pro584Arg
- rs863224946
- ClinGen CA279057
- ClinVar RCV000200957
- ClinVar RCV001335958
- Pathogenic
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- EBI: Pathogenic (in KOGS)
- UniProt: Pathogenic (in KOGS)
- Structural context available
- Cited in: Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. (PMID 25454926)
- Cited in: Phenotype expansion and development in Kosaki overgrowth syndrome. (PMID 29226947)