G1000V (p.Gly1000Val) variant of ATP7B (Copper-transporting ATPase 2)
G1000V (p.Gly1000Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G1000V (p.Gly1000Val) variant details
- p.Gly1000Val
- rs1957653671
- ClinGen CA388032072
- ClinVar RCV003045696
- ClinVar RCV005406563
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)