R8L (p.Arg8Leu) variant of CPT2 (P23786)
R8L (p.Arg8Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 1-53196966-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.56
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available