V899M (p.Val899Met) variant of ERBB3 (P21860)
V899M (p.Val899Met) in ERBB3 (P21860) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Visceral neuropathy, familial, 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
V899M (p.Val899Met) variant details
- p.Val899Met
- rs2136822199
- ClinGen CA385315431
- cosmic curated COSV57253
- ClinVar RCV001799812
- Likely pathogenic
- Visceral neuropathy, familial, 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- MutPred 0.72
- ClinVar: Likely pathogenic (Visceral neuropathy, familial, 1, autosomal recessive)
- EBI: Pathogenic (in VSCN1)
- UniProt: Pathogenic (in VSCN1)
- Structural context available
- Cited in: Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. (PMID 33497358)