A38T (p.Ala38Thr) variant of ATP7B (Copper-transporting ATPase 2)
A38T (p.Ala38Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ESP rs377230787
- ExAC rs377230787
- TOPMed rs377230787
- gnomAD rs377230787
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.10
- ClinVar: Uncertain significance (Wilson disease)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available