D118G (p.Asp118Gly) variant of ATP7B (Copper-transporting ATPase 2)
D118G (p.Asp118Gly) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D118G (p.Asp118Gly) variant details
- p.Asp118Gly
- rs1352002305
- ClinGen CA388044280
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.50
- ESM-1b 0.84
- AlphaMissense 0.09
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 0.24
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)