R1151H (p.Arg1151His) variant of ATP7B (Copper-transporting ATPase 2)
R1151H (p.Arg1151His) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
R1151H (p.Arg1151His) variant details
- p.Arg1151His
- rs377297166
- ClinGen CA6988682
- cosmic curated COSV54435
- ClinVar RCV000586771
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)