A6G (p.Ala6Gly) variant of PDGFRB (P09619)
A6G (p.Ala6Gly) 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 published literature and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- rs150173975
- ClinGen CA361730880
- ClinVar RCV002303198
- 1000Genomes rs150173975
- Uncertain significance
- Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-premature aging sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-pr)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)