P31H (p.Pro31His) variant of CPT2 (P23786)
P31H (p.Pro31His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- gnomAD 1-53197035-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.35
- MetaLR 0.39
- MetaSVM -0.21
- CADD 19.60
- PolyPhen-2 0.23
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available