Y562D (p.Tyr562Asp) variant of PDGFRB (P09619)
Y562D (p.Tyr562Asp) 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 0.87 / 1. The record also includes structural context.
Y562D (p.Tyr562Asp) variant details
- p.Tyr562Asp
- rs1760271956
- ClinGen CA361766393
- ClinVar RCV001249589
- Ensembl rs1760271956
- Pathogenic
- Infantile myofibromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Infantile myofibromatosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available