S26Y (p.Ser26Tyr) variant of G6PC1 (P35575)
S26Y (p.Ser26Tyr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S26Y (p.Ser26Tyr) variant details
- p.Ser26Tyr
- gnomAD 17-42900953-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- MetaLR 0.21
- MetaSVM -0.75
- CADD 16.20
- PolyPhen-2 0.23
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available