E1540K (p.Glu1540Lys) variant of ABCA3 (Q99758)
E1540K (p.Glu1540Lys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
E1540K (p.Glu1540Lys) variant details
- p.Glu1540Lys
- rs968080956
- ClinGen CA501013
- ClinVar RCV002342492
- ClinVar RCV003728102
- Likely pathogenic
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.02
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available