P1001L (p.Pro1001Leu) variant of ATP7A (Copper-transporting ATPase 1)
P1001L (p.Pro1001Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
P1001L (p.Pro1001Leu) variant details
- p.Pro1001Leu
- rs797045365
- ClinGen CA277255
- ClinVar RCV000194077
- ClinVar RCV000543168
- Likely pathogenic
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)