G28D (p.Gly28Asp) variant of CPT2 (P23786)
G28D (p.Gly28Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 1-53197026-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- MetaLR 0.33
- MetaSVM -0.56
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available