L46F (p.Leu46Phe) variant of G6PC1 (P35575)
L46F (p.Leu46Phe) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- ExAC rs570514299
- TOPMed rs570514299
- gnomAD rs570514299
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.99
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available