D68N (p.Asp68Asn) variant of ATP7A (Copper-transporting ATPase 1)
D68N (p.Asp68Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- rs782629836
- ClinGen CA10458894
- ClinVar RCV000821136
- ClinVar RCV004723244
- Conflicting interpretations
- Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kin
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.48
- CADD 19.90
- PolyPhen-2 0.07
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (Cutis laxa, X-linked; X-linked distal spinal muscular atrophy ty)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)