G96D (p.Gly96Asp) variant of ATP7B (Copper-transporting ATPase 2)
G96D (p.Gly96Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G96D (p.Gly96Asp) variant details
- p.Gly96Asp
- rs1429553821
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- UniProt VAR 000704
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.38
- ESM-1b 0.80
- AlphaMissense 0.13
- CADD 14.70
- ClinVar: Uncertain significance (Wilson disease)
- UniProt: Uncertain significance (in dbSNP:rs1429553821)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization… (PMID 7833924)