P59R (p.Pro59Arg) variant of PDGFRB (P09619)
P59R (p.Pro59Arg) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- 1000Genomes rs202213873
- ESP rs202213873
- ExAC rs202213873
- TOPMed rs202213873
- Uncertain significance
- Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available