C9S (p.Cys9Ser) variant of ACADM (P11310)
C9S (p.Cys9Ser) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C9S (p.Cys9Ser) variant details
- p.Cys9Ser
- gnomAD 1-75724812-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.40
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available