I49I (p.Ile49Ile) variant of G6PC1 (P35575)
I49I (p.Ile49Ile) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I49I (p.Ile49Ile) variant details
- p.Ile49Ile
- rs1304707892
- gnomAD 17-42901023-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 9.62
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Literature evidence available