D850G (p.Asp850Gly) variant of PDGFRB (P09619)
D850G (p.Asp850Gly) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibromatosis, infantile, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
D850G (p.Asp850Gly) variant details
- p.Asp850Gly
- rs1060499540
- ClinGen CA361760167
- ClinVar RCV003131894
- ClinVar RCV003989818
- Uncertain significance
- Myofibromatosis, infantile, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.16
- CADD 31.00
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Myofibromatosis, infantile, 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available