L61F (p.Leu61Phe) variant of G6PC1 (P35575)
L61F (p.Leu61Phe) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, 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 0.72 / 1. The record also includes population frequency data and structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs2544206624
- ClinGen CA399651154
- ClinVar RCV004067411
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.75
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available