E12Q (p.Glu12Gln) variant of ATP7B (Copper-transporting ATPase 2)
E12Q (p.Glu12Gln) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- TOPMed rs1382531592
- gnomAD rs1382531592
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available