R2W (p.Arg2Trp) variant of PDGFRB (P09619)
R2W (p.Arg2Trp) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- rs148272095
- ClinGen CA3508465
- ClinVar RCV003797595
- ClinVar RCV006449193
- Likely benign
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.06
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Likely benign (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)