L5P (p.Leu5Pro) variant of CPT2 (P23786)
L5P (p.Leu5Pro) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 1-53196957-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.49
- MetaLR 0.52
- MetaSVM 0.00
- CADD 26.70
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available