P1307R (p.Pro1307Arg) variant of ATP7A (Copper-transporting ATPase 1)
P1307R (p.Pro1307Arg) 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 0.95 / 1. The record also includes published literature and structural context.
P1307R (p.Pro1307Arg) variant details
- p.Pro1307Arg
- rs797045388
- ClinGen CA276967
- ClinVar RCV000192416
- Ensembl rs797045388
- Pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)