Q1095P (p.Gln1095Pro) variant of ATP7B (Copper-transporting ATPase 2)
Q1095P (p.Gln1095Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q1095P (p.Gln1095Pro) variant details
- p.Gln1095Pro
- rs1555285891
- ClinGen CA388028728
- ClinVar RCV000548917
- ClinVar RCV003480668
- Pathogenic/Likely pathogenic
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: A study of Wilson disease mutations in Britain. (PMID 10502777)
- Cited in: Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism… (PMID 16283883)