F5S (p.Phe5Ser) variant of ACADM (P11310)
F5S (p.Phe5Ser) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- gnomAD 1-75724795-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available