P80S (p.Pro80Ser) variant of ATP7A (Copper-transporting ATPase 1)
P80S (p.Pro80Ser) 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 Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P80S (p.Pro80Ser) variant details
- p.Pro80Ser
- rs781951786
- ClinGen CA10458900
- ClinVar RCV001330732
- ExAC rs781951786
- Uncertain significance
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.46
- CADD 19.30
- PolyPhen-2 0.52
- SIFT 0.18
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)