E64D (p.Glu64Asp) variant of ABCA3 (Q99758)
E64D (p.Glu64Asp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- ExAC rs748137752
- gnomAD rs748137752
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.11
- CADD 5.26
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available