C19Y (p.Cys19Tyr) variant of ATP7A (Copper-transporting ATPase 1)
C19Y (p.Cys19Tyr) 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; Cutis laxa, X-linked; Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- rs782127182
- ClinGen CA10458878
- ClinVar RCV002664044
- ClinVar RCV004072109
- Conflicting interpretations
- Inborn genetic diseases; Cutis laxa, X-linked; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Cutis laxa, X-linked; Menkes kinky-hair)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)