G13C (p.Gly13Cys) variant of CPT2 (P23786)
G13C (p.Gly13Cys) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 1-53196980-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.78
- CADD 8.85
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available