L8F (p.Leu8Phe) variant of G6PC1 (P35575)
L8F (p.Leu8Phe) in G6PC1 (P35575) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs1257822732
- gnomAD rs1257822732
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.74
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available