F47S (p.Phe47Ser) variant of G6PC1 (P35575)
F47S (p.Phe47Ser) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F47S (p.Phe47Ser) variant details
- p.Phe47Ser
- gnomAD 17-42901016-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.96
- MetaLR 0.67
- MetaSVM 0.47
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available