A828E (p.Ala828Glu) variant of PDGFRB (P09619)
A828E (p.Ala828Glu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.86 / 1. The record also includes published literature and structural context.
A828E (p.Ala828Glu) variant details
- p.Ala828Glu
- rs2113888986
- ClinGen CA361760639
- ClinVar RCV003006084
- Pathogenic
- Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-premature aging sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Infantile myofibromatosis; Acroosteolysis-keloid-like lesions-pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)