p.Trp10delinsTer variant of CPT2 (P23786)
p.Trp10delinsTer in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
p.Trp10delinsTer variant details
- rs1374482155
- gnomAD 1-53196971-T-TAGC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 25.90
- Most common in the South Asian population (allele frequency 6.4e-05)
- Structural context available
- Literature evidence available