I538N (p.Ile538Asn) variant of PDGFRB (P09619)
I538N (p.Ile538Asn) 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 0.56 / 1. The record also includes structural context.
I538N (p.Ile538Asn) variant details
- p.Ile538Asn
- rs1760301005
- ClinGen CA361713486
- ClinVar RCV001249590
- Ensembl rs1760301005
- Pathogenic
- Infantile myofibromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.87
- MetaLR 0.51
- MetaSVM 0.12
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Infantile myofibromatosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available