A1003T (p.Ala1003Thr) variant of ATP7B (Copper-transporting ATPase 2)
A1003T (p.Ala1003Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A1003T (p.Ala1003Thr) variant details
- p.Ala1003Thr
- rs2547645844
- ClinVar RCV004586366
- Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Wilson disease)
- EBI: Likely pathogenic (in WD)
- UniProt: Likely pathogenic (in WD)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. (PMID 10790207)
- Cited in: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease… (PMID 15811015)