N666K (p.Asn666Lys) variant of PDGFRB (P09619)
N666K (p.Asn666Lys) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Infantile myofibromatosis; Myofibromatosis, infantile, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
N666K (p.Asn666Lys) variant details
- p.Asn666Lys
- rs864309711
- ClinGen CA16609702
- ClinVar RCV000454372
- Ensembl rs864309711
- Pathogenic
- Infantile myofibromatosis; Myofibromatosis, infantile, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Infantile myofibromatosis)
- EBI: Pathogenic (in OPDKD)
- UniProt: Pathogenic (in OPDKD)
- Structural context available