G17V (p.Gly17Val) variant of CPT2 (P23786)
G17V (p.Gly17Val) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD 1-53196993-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.16
- MetaLR 0.33
- MetaSVM -0.79
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available