G85A (p.Gly85Ala) variant of ATP7B (Copper-transporting ATPase 2)
G85A (p.Gly85Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G85A (p.Gly85Ala) variant details
- p.Gly85Ala
- rs786204643
- ClinGen CA388044728
- ClinVar RCV003119308
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- UniProt: Conflicting interpretations (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)