S1067N (p.Ser1067Asn) variant of ATP7B (Copper-transporting ATPase 2)
S1067N (p.Ser1067Asn) 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 Wilson disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S1067N (p.Ser1067Asn) variant details
- p.Ser1067Asn
- rs2085422358
- ClinGen CA388029924
- ClinVar RCV003464946
- Ensembl rs2085422358
- Conflicting interpretations
- Wilson disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)