E18D (p.Glu18Asp) variant of ABCC6 (O95255)
E18D (p.Glu18Asp) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- TOPMed rs1238389360
- gnomAD rs1238389360
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.40
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available