G28V (p.Gly28Val) variant of CPT2 (P23786)
G28V (p.Gly28Val) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 1-53197026-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.17
- MetaLR 0.37
- MetaSVM -0.65
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available