E28K (p.Glu28Lys) variant of ABCA3 (Q99758)
E28K (p.Glu28Lys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs776002639
- TOPMed rs776002639
- gnomAD rs776002639
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available