L6R (p.Leu6Arg) variant of CPT2 (P23786)
L6R (p.Leu6Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- gnomAD 1-53196960-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.46
- MetaLR 0.56
- MetaSVM -0.09
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available