K567E (p.Lys567Glu) variant of PDGFRB (P09619)
K567E (p.Lys567Glu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myofibromatosis, infantile, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K567E (p.Lys567Glu) variant details
- p.Lys567Glu
- rs1554108389
- ClinGen CA361766358
- ClinVar RCV000498591
- Ensembl rs1554108389
- Pathogenic
- Myofibromatosis, infantile, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.85
- CADD 24.00
- PolyPhen-2 0.25
- SIFT 0.07
- ClinVar: Pathogenic (Myofibromatosis, infantile, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available