I36N (p.Ile36Asn) variant of G6PC1 (P35575)
I36N (p.Ile36Asn) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I36N (p.Ile36Asn) variant details
- p.Ile36Asn
- gnomAD 17-42900983-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- MetaLR 0.37
- MetaSVM -0.57
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available