K1010R (p.Lys1010Arg) variant of ATP7B (Copper-transporting ATPase 2)
K1010R (p.Lys1010Arg) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K1010R (p.Lys1010Arg) variant details
- p.Lys1010Arg
- rs747584649
- ClinGen CA6988835
- ClinVar RCV001236933
- UniProt VAR 076815
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. (PMID 25982861)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)