L14M (p.Leu14Met) variant of ACADVL (P49748)
L14M (p.Leu14Met) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- cosmic curated COSV10731
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- CADD 17.80
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available