S26F (p.Ser26Phe) variant of G6PC1 (P35575)
S26F (p.Ser26Phe) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S26F (p.Ser26Phe) variant details
- p.Ser26Phe
- cosmic curated COSV53832
- TOPMed rs1337808552
- gnomAD rs1337808552
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available