G13del (p.Gly13del) variant of CPT2 (P23786)
G13del (p.Gly13del) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G13del (p.Gly13del) variant details
- rs1553168847
- gnomAD 1-53196979-GGGC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available