G1459D (p.Gly1459Asp) variant of ABCA3 (Q99758)
G1459D (p.Gly1459Asp) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; not provided. The record also includes structural context.
G1459D (p.Gly1459Asp) variant details
- p.Gly1459Asp
- rs2505613797
- ClinGen CA394307699
- ClinVar RCV002333538
- ClinVar RCV005401959
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available