K49E (p.Lys49Glu) variant of ACAD9 (Q9H845)
K49E (p.Lys49Glu) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K49E (p.Lys49Glu) variant details
- p.Lys49Glu
- gnomAD 3-128879836-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.29
- MetaLR 0.41
- MetaSVM -0.35
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available