P31L (p.Pro31Leu) variant of CPT2 (P23786)
P31L (p.Pro31Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 1-53197035-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.19
- MetaLR 0.39
- MetaSVM -0.48
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available