D118N (p.Asp118Asn) variant of ATP7B (Copper-transporting ATPase 2)
D118N (p.Asp118Asn) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D118N (p.Asp118Asn) variant details
- p.Asp118Asn
- rs769655497
- ClinGen CA6989579
- ClinVar RCV000507116
- ClinVar RCV000945359
- Conflicting interpretations
- not provided; Wilson disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.56
- ESM-1b 0.21
- AlphaMissense 0.08
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)