V839M (p.Val839Met) variant of ERBB2 (P04626)
V839M (p.Val839Met) 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 0.49 / 1. The record also includes structural context.
V839M (p.Val839Met) variant details
- p.Val839Met
- rs2145862874
- ClinGen CA399304217
- cosmic curated COSV10605
- ClinVar RCV003332934
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.34
- MetaLR 0.42
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.55
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available