L5M (p.Leu5Met) variant of CPT2 (P23786)
L5M (p.Leu5Met) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 1-53196956-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.27
- MetaLR 0.51
- MetaSVM 0.04
- CADD 23.40
- PolyPhen-2 0.72
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available