D115E (p.Asp115Glu) variant of ABCA3 (Q99758)
D115E (p.Asp115Glu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D115E (p.Asp115Glu) variant details
- p.Asp115Glu
- ESP rs148377880
- ExAC rs148377880
- TOPMed rs148377880
- gnomAD rs148377880
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.30
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available