G85D (p.Gly85Asp) variant of ATP7B (Copper-transporting ATPase 2)
G85D (p.Gly85Asp) 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 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.
G85D (p.Gly85Asp) variant details
- p.Gly85Asp
- rs786204643
- ClinGen CA388044726
- ClinVar RCV003990607
- ClinVar RCV004674011
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)