P3H (p.Pro3His) variant of CPT2 (P23786)
P3H (p.Pro3His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- gnomAD 1-53196951-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.33
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available