G32S (p.Gly32Ser) variant of PDGFRB (P09619)
G32S (p.Gly32Ser) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-premature aging sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs761286709
- ClinGen CA3508414
- ClinVar RCV001773882
- ClinVar RCV002540243
- Uncertain significance
- Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-premature aging sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- CADD 11.20
- PolyPhen-2 0.35
- SIFT 0.49
- ClinVar: Uncertain significance (Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- 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)