L658P (p.Leu658Pro) variant of PDGFRB (P09619)
L658P (p.Leu658Pro) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Basal ganglia calcification, idiopathic, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L658P (p.Leu658Pro) variant details
- p.Leu658Pro
- rs397509381
- ClinGen CA343798
- ClinVar RCV000032788
- UniProt VAR 069320
- Pathogenic
- Basal ganglia calcification, idiopathic, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Basal ganglia calcification, idiopathic, 4)
- EBI: Pathogenic (in IBGC4)
- UniProt: Pathogenic (in IBGC4)
- Structural context available
- Cited in: Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. (PMID 23255827)
- Cited in: Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. (PMID 24065723)