G1341S (p.Gly1341Ser) variant of ATP7B (Copper-transporting ATPase 2)
G1341S (p.Gly1341Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G1341S (p.Gly1341Ser) variant details
- p.Gly1341Ser
- rs587783317
- UniProt VAR 044489
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.01
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease. (PMID 14639035)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)