R13E (p.Arg13Glu) variant of ACADM (P11310)
R13E (p.Arg13Glu) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R13E (p.Arg13Glu) variant details
- p.Arg13Glu
- gnomAD 1-75728406-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available