V2L (p.Val2Leu) variant of CPT2 (P23786)
V2L (p.Val2Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- gnomAD 1-53196947-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.20
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available