S26P (p.Ser26Pro) variant of G6PC1 (P35575)
S26P (p.Ser26Pro) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S26P (p.Ser26Pro) variant details
- p.Ser26Pro
- gnomAD 17-42900952-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.36
- MetaLR 0.44
- MetaSVM -0.22
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available