E94G (p.Glu94Gly) variant of ATP7B (Copper-transporting ATPase 2)
E94G (p.Glu94Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E94G (p.Glu94Gly) variant details
- p.Glu94Gly
- Ensembl rs1255028771
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.10
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available