R12L (p.Arg12Leu) variant of CPT2 (P23786)
R12L (p.Arg12Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 1-53196978-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.76
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available