R2Q (p.Arg2Gln) variant of PDGFRB (P09619)
R2Q (p.Arg2Gln) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- rs372399976
- ClinGen CA3508464
- ClinVar RCV004503253
- ClinVar RCV005220906
- Conflicting interpretations
- Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.0465
- REVEL 0.02
- CADD 1.66
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)