Q51R (p.Gln51Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
Q51R (p.Gln51Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- ExAC rs777921361
- gnomAD rs777921361
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.14
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available