P840T (p.Pro840Thr) variant of ATP7B (Copper-transporting ATPase 2)
P840T (p.Pro840Thr) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P840T (p.Pro840Thr) variant details
- p.Pro840Thr
- rs1017756733
- ClinGen CA250058560
- ClinVar RCV001379176
- ClinVar RCV001509443
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)