G1030S (p.Gly1030Ser) variant of ATP7B (Copper-transporting ATPase 2)
G1030S (p.Gly1030Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1030S (p.Gly1030Ser) variant details
- p.Gly1030Ser
- rs1957518268
- ClinGen CA388030552
- ClinVar RCV001220850
- ClinVar RCV004590237
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- ESM-1b 0.75
- AlphaMissense 0.84
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)