D1267A (p.Asp1267Ala) variant of ATP7B (Copper-transporting ATPase 2)
D1267A (p.Asp1267Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D1267A (p.Asp1267Ala) variant details
- p.Asp1267Ala
- rs1555283916
- ClinGen CA388022010
- ClinVar RCV000667671
- UniProt VAR 000782
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.88
- CADD 26.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. (PMID 10790207)
- Cited in: Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with… (PMID 12544487)