R64Q (p.Arg64Gln) variant of PDGFRB (P09619)
R64Q (p.Arg64Gln) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs1244128395
- ClinGen CA361728954
- ClinVar RCV003786743
- TOPMed rs1244128395
- Uncertain significance
- Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calci
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (Acroosteolysis-keloid-like lesions-premature aging syndrome; Bas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)