Y23H (p.Tyr23His) variant of G6PC1 (P35575)
Y23H (p.Tyr23His) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- gnomAD 17-42900943-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.63
- MetaLR 0.52
- MetaSVM 0.02
- CADD 26.90
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available