L6M (p.Leu6Met) variant of CPT2 (P23786)
L6M (p.Leu6Met) 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.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 1-53196959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.26
- MetaLR 0.55
- MetaSVM -0.40
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available