I13T (p.Ile13Thr) variant of G6PC1 (P35575)
I13T (p.Ile13Thr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- ExAC rs762723628
- gnomAD rs762723628
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.66
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available