R40G (p.Arg40Gly) variant of G6PC1 (P35575)
R40G (p.Arg40Gly) 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 0.57 / 1. The record also includes population frequency data and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- ESP rs376555092
- TOPMed rs376555092
- gnomAD rs376555092
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.65
- CADD 24.20
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available