G614C (p.Gly614Cys) variant of ATP7B (Copper-transporting ATPase 2)
G614C (p.Gly614Cys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G614C (p.Gly614Cys) variant details
- p.Gly614Cys
- rs376565432
- ClinGen CA245888
- ClinVar RCV000178707
- ClinVar RCV000707370
- Uncertain significance
- not specified; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.84
- MetaSVM 0.83
- CADD 27.30
- ClinVar: Uncertain significance (not specified; not provided; Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: A genetic study of Wilson's disease in the United Kingdom. (PMID 23518715)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)