H17H (p.His17His) variant of G6PC1 (P35575)
H17H (p.His17His) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H17H (p.His17His) variant details
- p.His17His
- rs1356393936
- gnomAD 17-42900927-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 6.27
- Population evidence available
- Structural context available
- Literature evidence available