H52H (p.His52His) variant of G6PC1 (P35575)
H52H (p.His52His) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H52H (p.His52His) variant details
- p.His52His
- gnomAD 17-42901032-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 5.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available