L84S (p.Leu84Ser) variant of ATP7A (Copper-transporting ATPase 1)
L84S (p.Leu84Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L84S (p.Leu84Ser) variant details
- p.Leu84Ser
- rs2522289247
- ClinGen CA413599185
- ClinVar RCV003792065
- Uncertain significance
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.25
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.81
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)