A21D (p.Ala21Asp) variant of G6PC2 (Glucose-6-phosphatase 2)
A21D (p.Ala21Asp) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- Ensembl rs1690587997
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.18
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available