K54E (p.Lys54Glu) variant of ACADM (P11310)
K54E (p.Lys54Glu) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- gnomAD 1-75732685-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.75
- CADD 24.10
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available