G32C (p.Gly32Cys) variant of CPT2 (P23786)
G32C (p.Gly32Cys) 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.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- gnomAD 1-53197037-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.38
- MetaLR 0.38
- MetaSVM -0.55
- CADD 19.90
- PolyPhen-2 0.55
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available