G43S (p.Gly43Ser) variant of ATP7B (Copper-transporting ATPase 2)
G43S (p.Gly43Ser) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- rs1255787917
- ClinGen CA388045274
- ClinVar RCV001971548
- gnomAD rs1255787917
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.90
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)