H38Y (p.His38Tyr) variant of ATP7A (Copper-transporting ATPase 1)
H38Y (p.His38Tyr) 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 Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- rs1603378831
- ClinGen CA413597856
- ClinVar RCV000803406
- Ensembl rs1603378831
- Uncertain significance
- Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kin
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.11
- MetaLR 0.33
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.97
- MutPred 0.46
- ClinVar: Uncertain significance (Cutis laxa, X-linked; X-linked distal spinal muscular atrophy ty)
- 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)