A1074V (p.Ala1074Val) variant of ATP7B (Copper-transporting ATPase 2)
A1074V (p.Ala1074Val) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A1074V (p.Ala1074Val) variant details
- p.Ala1074Val
- rs1206016866
- ClinGen CA388029823
- ClinVar RCV000588068
- ClinVar RCV001829614
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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 HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: A genetic study of Wilson's disease in the United Kingdom. (PMID 23518715)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)