A991D (p.Ala991Asp) variant of ATP7A (Copper-transporting ATPase 1)
A991D (p.Ala991Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked distal spinal muscular atrophy type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature.
A991D (p.Ala991Asp) variant details
- p.Ala991Asp
- rs1557236729
- ClinGen CA413603119
- ClinVar RCV000664208
- gnomAD rs1557236729
- Likely pathogenic
- X-linked distal spinal muscular atrophy type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.21
- MetaLR 0.75
- MetaSVM 0.40
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.32
- ClinVar: Likely pathogenic (X-linked distal spinal muscular atrophy type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)