P11H (p.Pro11His) variant of CPT2 (P23786)
P11H (p.Pro11His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 1-53196975-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- MetaLR 0.36
- MetaSVM -0.71
- CADD 14.50
- PolyPhen-2 0.14
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available