T977M (p.Thr977Met) variant of ATP7B (Copper-transporting ATPase 2)
T977M (p.Thr977Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hearing loss, autosomal recessive 109; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T977M (p.Thr977Met) variant details
- p.Thr977Met
- rs72552255
- ClinGen CA220308
- ClinVar RCV000029359
- ClinVar RCV000790662
- Pathogenic
- Hearing loss, autosomal recessive 109; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.88
- MetaSVM 0.98
- CADD 26.70
- ClinVar: Pathogenic (Hearing loss, autosomal recessive 109; Inborn genetic diseases;)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight… (PMID 15952988)
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)