S14V (p.Ser14Val) variant of ACADM (P11310)
S14V (p.Ser14Val) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S14V (p.Ser14Val) variant details
- p.Ser14Val
- gnomAD 1-75728408-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available