K17del (p.Lys17del) variant of G6PC2 (Glucose-6-phosphatase 2)
K17del (p.Lys17del) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K17del (p.Lys17del) variant details
- rs768169038
- gnomAD 2-168901377-CAGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 18.90
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available