L39R (p.Leu39Arg) variant of G6PC1 (P35575)
L39R (p.Leu39Arg) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- gnomAD 17-42900992-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.75
- MetaLR 0.62
- MetaSVM 0.30
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available