G13E (p.Gly13Glu) variant of ATP7B (Copper-transporting ATPase 2)
G13E (p.Gly13Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs371758114
- ClinGen CA6989712
- ClinVar RCV003393323
- ESP rs371758114
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 4.99
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available