G13A (p.Gly13Ala) variant of CPT2 (P23786)
G13A (p.Gly13Ala) in CPT2 (P23786) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs786204647
- gnomAD 1-53196977-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 21.90
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available