E79D (p.Glu79Asp) variant of ABCA3 (Q99758)
E79D (p.Glu79Asp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- gnomAD rs1447801490
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.59
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available