Q70R (p.Gln70Arg) variant of ATP7B (Copper-transporting ATPase 2)
Q70R (p.Gln70Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q70R (p.Gln70Arg) variant details
- p.Gln70Arg
- gnomAD rs1213175906
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.30
- PolyPhen-2 0.32
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available