P147L (p.Pro147Leu) variant of ABCA3 (Q99758)
P147L (p.Pro147Leu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; not provided; Loeys-Dietz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P147L (p.Pro147Leu) variant details
- p.Pro147Leu
- rs200171469
- ClinGen CA7841670
- ClinVar RCV002333802
- ClinVar RCV003560962
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Loeys-Dietz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Loeys-D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)