T1178A (p.Thr1178Ala) variant of ATP7B (Copper-transporting ATPase 2)
T1178A (p.Thr1178Ala) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T1178A (p.Thr1178Ala) variant details
- p.Thr1178Ala
- rs1387431334
- ClinGen CA388026028
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54439
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 27.70
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent… (PMID 17823867)
- Cited in: Mutational analysis of ATP7B in north Chinese patients with Wilson disease. (PMID 23235335)