E32D (p.Glu32Asp) variant of ACADM (P11310)
E32D (p.Glu32Asp) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- gnomAD 1-75728466-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.49
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available