L1553P (p.Leu1553Pro) variant of ABCA3 (Q99758)
L1553P (p.Leu1553Pro) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L1553P (p.Leu1553Pro) variant details
- p.Leu1553Pro
- rs121909183
- ClinGen CA119215
- ClinVar RCV000008477
- UniProt VAR 023499
- Pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Structural context available
- Cited in: ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID 15044640)
- Cited in: Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. (PMID 16959783)