G1186S (p.Gly1186Ser) variant of ATP7B (Copper-transporting ATPase 2)
G1186S (p.Gly1186Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G1186S (p.Gly1186Ser) variant details
- p.Gly1186Ser
- rs786204547
- ClinGen CA274098
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54439
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 35.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Molecular analysis and diagnosis in Japanese patients with Wilson's disease. (PMID 10453196)
- Cited in: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. (PMID 10790207)