Q47L (p.Gln47Leu) variant of ABCA3 (Q99758)
Q47L (p.Gln47Leu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q47L (p.Gln47Leu) variant details
- p.Gln47Leu
- TOPMed rs997304312
- gnomAD rs997304312
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.49
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available