A61V (p.Ala61Val) variant of G6PC2 (Glucose-6-phosphatase 2)
A61V (p.Ala61Val) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- TOPMed rs903875419
- gnomAD rs903875419
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.70
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available