E64A (p.Glu64Ala) variant of ABCA3 (Q99758)
E64A (p.Glu64Ala) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Interstitial lung disease due to ABCA3 deficiency. The record also includes structural context.
E64A (p.Glu64Ala) variant details
- p.Glu64Ala
- rs886051834
- ClinGen CA10647184
- ClinVar RCV000389710
- Ensembl rs886051834
- Uncertain significance
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- ClinVar: Uncertain significance (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available