L6P (p.Leu6Pro) variant of CPT2 (P23786)
L6P (p.Leu6Pro) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 1-53196960-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.58
- MetaLR 0.57
- MetaSVM -0.11
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available