G85S (p.Gly85Ser) variant of ATP7B (Copper-transporting ATPase 2)
G85S (p.Gly85Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G85S (p.Gly85Ser) variant details
- p.Gly85Ser
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- TOPMed rs1952033474
- gnomAD rs1952033474
- Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 24.10
- ClinVar: Likely pathogenic (Wilson disease)
- UniProt: Likely pathogenic (in WD)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available