R16Q (p.Arg16Gln) variant of ATP7B (Copper-transporting ATPase 2)
R16Q (p.Arg16Gln) in ATP7B (Copper-transporting ATPase 2) is a missense change. 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.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- TOPMed rs1424030614
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available