K1010T (p.Lys1010Thr) variant of ATP7B (Copper-transporting ATPase 2)
K1010T (p.Lys1010Thr) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
K1010T (p.Lys1010Thr) variant details
- p.Lys1010Thr
- rs747584649
- ClinGen CA388031901
- ClinVar RCV001389304
- ClinVar RCV003481106
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large… (PMID 21645214)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)