A14T (p.Ala14Thr) variant of ATP7B (Copper-transporting ATPase 2)
A14T (p.Ala14Thr) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs773119230
- ClinGen CA6989711
- ClinVar RCV002740587
- ExAC rs773119230
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.26
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in dbSNP:rs587783319)
- UniProt: Uncertain significance (in dbSNP:rs587783319)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)