V104M (p.Val104Met) variant of ERBB3 (P21860)
V104M (p.Val104Met) in ERBB3 (P21860) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V104M (p.Val104Met) variant details
- p.Val104Met
- rs1057519893
- ClinGen CA16602847
- NCI-TCGA Cosmic COSV5724
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.58
- MetaLR 0.62
- MetaSVM 0.29
- CADD 24.20
- PolyPhen-2 0.64
- SIFT 0.08
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic (in an ovarian mucinous carcinoma sample)
- UniProt: Pathogenic (in an ovarian mucinous carcinoma sample)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)