I30M (p.Ile30Met) variant of ATP7A (Copper-transporting ATPase 1)
I30M (p.Ile30Met) 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 X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I30M (p.Ile30Met) variant details
- p.Ile30Met
- rs2149073867
- ClinGen CA413597805
- ClinVar RCV001955462
- Ensembl rs2149073867
- Uncertain significance
- X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM -0.16
- PolyPhen-2 0.57
- SIFT 0.06
- MutPred 0.66
- ClinVar: Uncertain significance (X-linked distal spinal muscular atrophy type 3; Menkes kinky-hai)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)