P4Q (p.Pro4Gln) variant of PDGFRB (P09619)
P4Q (p.Pro4Gln) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- rs144923639
- ClinGen CA3508462
- ClinVar RCV003410425
- ClinVar RCV006561581
- Conflicting interpretations
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0795
- REVEL 0.06
- CADD 7.76
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)