Q7R (p.Gln7Arg) variant of ATP7B (Copper-transporting ATPase 2)
Q7R (p.Gln7Arg) 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 not specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs764340318
- ClinGen CA6989717
- ClinVar RCV001920007
- ExAC rs764340318
- Uncertain significance
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; 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)