D642H (p.Asp642His) variant of ATP7B (Copper-transporting ATPase 2)
D642H (p.Asp642His) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D642H (p.Asp642His) variant details
- p.Asp642His
- rs72552285
- ClinGen CA274388
- ClinVar RCV000169521
- ClinVar RCV001508348
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.80
- MetaSVM 0.74
- CADD 28.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a… (PMID 18203200)
- Cited in: Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. (PMID 21682854)