L7V (p.Leu7Val) variant of CPT2 (P23786)
L7V (p.Leu7Val) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- gnomAD 1-53196962-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- MetaLR 0.40
- MetaSVM -0.64
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available