K46E (p.Lys46Glu) variant of ATP7A (Copper-transporting ATPase 1)
K46E (p.Lys46Glu) 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; Menkes kinky-hair syndrome; Cutis laxa, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- rs1603381269
- ClinGen CA413598756
- ClinVar RCV002269773
- ClinVar RCV003096105
- Uncertain significance
- not provided; Menkes kinky-hair syndrome; Cutis laxa, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.56
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Menkes kinky-hair syndrome; Cutis laxa, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)