G17D (p.Gly17Asp) variant of CPT2 (P23786)
G17D (p.Gly17Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD 1-53196993-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.22
- MetaLR 0.31
- MetaSVM -0.82
- CADD 13.60
- PolyPhen-2 0.05
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available