E28A (p.Glu28Ala) variant of ABCA3 (Q99758)
E28A (p.Glu28Ala) 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 0.65 / 1. The record also includes population frequency data and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- TOPMed rs1226605978
- gnomAD rs1226605978
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.65
- CADD 27.40
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available