P852L (p.Pro852Leu) variant of ATP7A (Copper-transporting ATPase 1)
P852L (p.Pro852Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature.
P852L (p.Pro852Leu) variant details
- p.Pro852Leu
- rs797045360
- ClinGen CA277380
- ClinVar RCV000194783
- Ensembl rs797045360
- Pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.57
- MetaLR 0.90
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)