V14F (p.Val14Phe) variant of ATP7A (Copper-transporting ATPase 1)
V14F (p.Val14Phe) 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; Cutis laxa, X-linked; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
V14F (p.Val14Phe) variant details
- p.Val14Phe
- rs2077547867
- ClinGen CA413597687
- cosmic curated COSV58456
- ClinVar RCV003798328
- Uncertain significance
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.74
- MetaLR 0.89
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)