P24H (p.Pro24His) variant of CPT2 (P23786)
P24H (p.Pro24His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 1-53197014-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- MetaLR 0.38
- MetaSVM -0.73
- CADD 5.90
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available