K46N (p.Lys46Asn) variant of ACADM (P11310)
K46N (p.Lys46Asn) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K46N (p.Lys46Asn) variant details
- p.Lys46Asn
- gnomAD 1-75732658-CAGAA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available