H17Q (p.His17Gln) variant of G6PC1 (P35575)
H17Q (p.His17Gln) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- gnomAD 17-42900927-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.02
- CADD 2.37
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available