Q56E (p.Gln56Glu) variant of ATP7B (Copper-transporting ATPase 2)
Q56E (p.Gln56Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q56E (p.Gln56Glu) variant details
- p.Gln56Glu
- gnomAD rs1336373356
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available