V697M (p.Val697Met) variant of ERBB2 (P04626)
V697M (p.Val697Met) 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 population frequency data and structural context.
V697M (p.Val697Met) variant details
- p.Val697Met
- rs2145811711
- ClinGen CA399301581
- ClinVar RCV003332933
- Ensembl rs2145811711
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.38
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available