A3E (p.Ala3Glu) variant of ACADM (P11310)
A3E (p.Ala3Glu) 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.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 1-75724795-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available