D86G (p.Asp86Gly) variant of ATP7A (Copper-transporting ATPase 1)
D86G (p.Asp86Gly) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- rs2149082599
- ClinGen CA413599208
- ClinVar RCV001988821
- Ensembl rs2149082599
- Uncertain significance
- Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kin
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.68
- SIFT 0.42
- ClinVar: Uncertain significance (Cutis laxa, X-linked; X-linked distal spinal muscular atrophy ty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)