P24L (p.Pro24Leu) variant of CPT2 (P23786)
P24L (p.Pro24Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD 1-53197014-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.15
- MetaLR 0.37
- MetaSVM -0.78
- CADD 5.76
- PolyPhen-2 0.01
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available