Q28L (p.Gln28Leu) variant of ATP7A (Copper-transporting ATPase 1)
Q28L (p.Gln28Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Menkes kinky-hair syndrome; X-linked distal spinal musc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q28L (p.Gln28Leu) variant details
- p.Gln28Leu
- rs782146244
- ClinGen CA10458881
- ClinVar RCV002202210
- ClinVar RCV003161390
- Conflicting interpretations
- Inborn genetic diseases; Menkes kinky-hair syndrome; X-linked distal spinal musc
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.56
- CADD 21.60
- PolyPhen-2 0.27
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Menkes kinky-hair syndrome; X-linked di)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)