E95Q (p.Glu95Gln) variant of ABCA3 (Q99758)
E95Q (p.Glu95Gln) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E95Q (p.Glu95Gln) variant details
- p.Glu95Gln
- TOPMed rs1339472381
- gnomAD rs1339472381
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available