V7M (p.Val7Met) variant of ATP7A (Copper-transporting ATPase 1)
V7M (p.Val7Met) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- rs1231396067
- ClinGen CA413597641
- ClinVar RCV003793142
- TOPMed rs1231396067
- Likely benign
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.25
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Likely benign (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00038)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)