Q4R (p.Gln4Arg) variant of ATP7B (Copper-transporting ATPase 2)
Q4R (p.Gln4Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- ExAC rs781780227
- gnomAD rs781780227
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.70
- MetaSVM -0.14
- CADD 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available