D850V (p.Asp850Val) variant of PDGFRB (P09619)
D850V (p.Asp850Val) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Infantile myofibromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
D850V (p.Asp850Val) variant details
- p.Asp850Val
- rs1060499540
- ClinGen CA16609704
- ClinVar RCV000454369
- gnomAD rs1060499540
- Pathogenic
- Infantile myofibromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.16
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Infantile myofibromatosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available