R43L (p.Arg43Leu) variant of ABCA3 (Q99758)
R43L (p.Arg43Leu) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in SMDP3. The record also includes published literature and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- UniProt VAR 084240
- Uncertain significance
- in SMDP3
- Missense
- EBI: Variant of uncertain significance (in SMDP3)
- UniProt: Uncertain significance (in SMDP3)
- Structural context available
- Cited in: Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. (PMID 16728712)
- Cited in: ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID 15044640)