Q71R (p.Gln71Arg) variant of PDGFRB (P09619)
Q71R (p.Gln71Arg) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.29 / 1. The record also includes population frequency data and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- ExAC rs778879949
- TOPMed rs778879949
- gnomAD rs778879949
- Uncertain significance
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- CADD 16.80
- PolyPhen-2 0.43
- SIFT 0.49
- ClinVar: Uncertain significance (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available