R4C (p.Arg4Cys) variant of CPT2 (P23786)
R4C (p.Arg4Cys) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- gnomAD 1-53196953-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.23
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available