Y23H (p.Tyr23His) variant of G6PC2 (Glucose-6-phosphatase 2)
Y23H (p.Tyr23His) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- gnomAD rs1690588311
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available