K46E (p.Lys46Glu) variant of ACADM (P11310)
K46E (p.Lys46Glu) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- Ensembl rs989908970
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.65
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available