E40E (p.Glu40Glu) variant of ACADM (P11310)
E40E (p.Glu40Glu) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- rs370303161
- gnomAD 1-75732645-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 1.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available