S34C (p.Ser34Cys) variant of G6PC1 (P35575)
S34C (p.Ser34Cys) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- Ensembl rs2056021908
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.82
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available