N1270S (p.Asn1270Ser) variant of ATP7B (Copper-transporting ATPase 2)
N1270S (p.Asn1270Ser) 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 Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
N1270S (p.Asn1270Ser) variant details
- p.Asn1270Ser
- rs121907990
- ClinGen CA252896
- ClinVar RCV000004063
- ClinVar RCV000595271
- Uncertain significance
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.40
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. (PMID 10790207)
- Cited in: A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates. (PMID 11231950)