A710V (p.Ala710Val) variant of ERBB2 (P04626)
A710V (p.Ala710Val) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Visceral neuropathy, familial, 2, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
A710V (p.Ala710Val) variant details
- p.Ala710Val
- rs2145813505
- ClinGen CA399301840
- ClinVar RCV001548738
- UniProt VAR 086107
- Pathogenic
- Visceral neuropathy, familial, 2, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.76
- MetaLR 0.59
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.34
- ClinVar: Pathogenic (Visceral neuropathy, familial, 2, autosomal recessive)
- EBI: Pathogenic (in VSCN2)
- UniProt: Pathogenic (in VSCN2)
- Structural context available
- Cited in: Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. (PMID 33497358)