W566R (p.Trp566Arg) variant of PDGFRB (P09619)
W566R (p.Trp566Arg) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Acroosteolysis-keloid-like lesions-premature aging syndrome; Infan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
W566R (p.Trp566Arg) variant details
- p.Trp566Arg
- rs1060499542
- ClinGen CA16609705
- ClinVar RCV000454367
- ClinVar RCV000497546
- Pathogenic
- not provided; Acroosteolysis-keloid-like lesions-premature aging syndrome; Infan
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Acroosteolysis-keloid-like lesions-premature aging)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Expansion of the phenotype of Kosaki overgrowth syndrome. (PMID 28639748)
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)