R4P (p.Arg4Pro) variant of CPT2 (P23786)
R4P (p.Arg4Pro) in CPT2 (P23786) is a protein-truncating 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.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- gnomAD 1-53196952-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available