G309E (p.Gly309Glu) variant of ERBB2 (P04626)
G309E (p.Gly309Glu) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of urinary bladder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
G309E (p.Gly309Glu) variant details
- p.Gly309Glu
- rs1057519787
- ClinGen CA16602596
- cosmic curated COSV54070
- ClinVar RCV003332168
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.94
- MetaLR 0.53
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available