F11S (p.Phe11Ser) variant of G6PC1 (P35575)
F11S (p.Phe11Ser) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- gnomAD rs1162228925
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available