I8V (p.Ile8Val) variant of ATP7B (Copper-transporting ATPase 2)
I8V (p.Ile8Val) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- rs1322672752
- ClinGen CA388047656
- ClinVar RCV002770715
- TOPMed rs1322672752
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.08
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)