G1035V (p.Gly1035Val) variant of ATP7B (Copper-transporting ATPase 2)
G1035V (p.Gly1035Val) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G1035V (p.Gly1035Val) variant details
- p.Gly1035Val
- rs753594031
- ClinGen CA16041666
- cosmic curated COSV99666
- ClinVar RCV000410994
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Molecular analysis and diagnosis in Japanese patients with Wilson's disease. (PMID 10453196)
- Cited in: Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large… (PMID 21645214)