R64W (p.Arg64Trp) variant of PDGFRB (P09619)
R64W (p.Arg64Trp) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Acroosteo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- 1000Genomes rs367993439
- ESP rs367993439
- ExAC rs367993439
- TOPMed rs367993439
- Uncertain significance
- Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Acroosteo
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.94
- SIFT 0.18
- ClinVar: Uncertain significance (Basal ganglia calcification, idiopathic, 4; Infantile myofibroma)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available