D88E (p.Asp88Glu) variant of ABCA3 (Q99758)
D88E (p.Asp88Glu) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D88E (p.Asp88Glu) variant details
- p.Asp88Glu
- ExAC rs756824803
- TOPMed rs756824803
- gnomAD rs756824803
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.33
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available