L62I (p.Leu62Ile) variant of ATP7A (Copper-transporting ATPase 1)
L62I (p.Leu62Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
L62I (p.Leu62Ile) variant details
- p.Leu62Ile
- rs868928182
- TOPMed rs868928182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.16
- MetaLR 0.49
- MetaSVM -0.24
- PolyPhen-2 0.10
- SIFT 0.58
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available