A1003V (p.Ala1003Val) variant of ATP7B (Copper-transporting ATPase 2)
A1003V (p.Ala1003Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Wilson disease; Abnormality of metabolism/homeostasis. 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.
A1003V (p.Ala1003Val) variant details
- p.Ala1003Val
- rs775055397
- ClinGen CA273949
- cosmic curated COSV54440
- ClinVar RCV000169109
- Uncertain significance
- not provided; Wilson disease; Abnormality of metabolism/homeostasis
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. (PMID 23333878)