A15R (p.Ala15Arg) variant of CPT2 (P23786)
A15R (p.Ala15Arg) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A15R (p.Ala15Arg) variant details
- p.Ala15Arg
- gnomAD 1-53196981-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available