E43G (p.Glu43Gly) variant of ACADM (P11310)
E43G (p.Glu43Gly) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- ExAC rs764413858
- gnomAD rs764413858
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.82
- CADD 25.20
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available