L7M (p.Leu7Met) variant of CPT2 (P23786)
L7M (p.Leu7Met) in CPT2 (P23786) 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.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 1-53196962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.28
- MetaLR 0.39
- MetaSVM -0.54
- CADD 16.70
- PolyPhen-2 0.20
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available