A1003G (p.Ala1003Gly) variant of ATP7B (Copper-transporting ATPase 2)
A1003G (p.Ala1003Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A1003G (p.Ala1003Gly) variant details
- p.Ala1003Gly
- rs775055397
- ClinGen CA388032023
- ClinVar RCV004015826
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 24.60
- 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:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)