R561C (p.Arg561Cys) variant of PDGFRB (P09619)
R561C (p.Arg561Cys) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Infantile myofibromatosis; Myofibromatosis, infantile, 1; Acroosteolysis-keloid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R561C (p.Arg561Cys) variant details
- p.Arg561Cys
- rs367543286
- ClinGen CA328075
- ClinVar RCV000049264
- ClinVar RCV000390507
- Pathogenic
- Infantile myofibromatosis; Myofibromatosis, infantile, 1; Acroosteolysis-keloid
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Infantile myofibromatosis; Myofibromatosis, infantile, 1; Acroos)
- EBI: Pathogenic (in IMF1)
- UniProt: Pathogenic (in IMF1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A recurrent PDGFRB mutation causes familial infantile myofibromatosis. (PMID 23731537)
- Cited in: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. (PMID 23731542)