A58T (p.Ala58Thr) variant of ATP7B (Copper-transporting ATPase 2)
A58T (p.Ala58Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- rs1427888614
- TOPMed rs1427888614
- gnomAD rs1427888614
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available