I49L (p.Ile49Leu) variant of G6PC1 (P35575)
I49L (p.Ile49Leu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I49L (p.Ile49Leu) variant details
- p.Ile49Leu
- gnomAD 17-42901021-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.85
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available