P1386S (p.Pro1386Ser) variant of ATP7A (Copper-transporting ATPase 1)
P1386S (p.Pro1386Ser) 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; X-linked distal spinal muscular atrophy type 3; Cuti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
P1386S (p.Pro1386Ser) variant details
- p.Pro1386Ser
- rs267606672
- ClinGen CA256077
- ClinVar RCV000012562
- ClinVar RCV000789728
- Pathogenic
- Menkes kinky-hair syndrome; X-linked distal spinal muscular atrophy type 3; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Menkes kinky-hair syndrome; X-linked distal spinal muscular atro)
- EBI: Pathogenic (in HMNX)
- UniProt: Pathogenic (in HMNX)
- Cited in: X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. (PMID 19153371)
- Cited in: Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. (PMID 20170900)