A1274V (p.Ala1274Val) variant of ATP7B (Copper-transporting ATPase 2)
A1274V (p.Ala1274Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A1274V (p.Ala1274Val) variant details
- p.Ala1274Val
- rs1555283882
- ClinGen CA388021873
- ClinVar RCV000667168
- Ensembl rs1555283882
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)