L7P (p.Leu7Pro) variant of CPT2 (P23786)
L7P (p.Leu7Pro) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 1-53196963-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.48
- MetaLR 0.39
- MetaSVM -0.59
- CADD 23.60
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available