N1270I (p.Asn1270Ile) variant of ATP7B (Copper-transporting ATPase 2)
N1270I (p.Asn1270Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
N1270I (p.Asn1270Ile) variant details
- p.Asn1270Ile
- rs121907990
- ClinGen CA6988565
- ClinVar RCV002248978
- ESP rs121907990
- Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.30
- ClinVar: Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)