T24S (p.Thr24Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
T24S (p.Thr24Ser) 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.
T24S (p.Thr24Ser) variant details
- p.Thr24Ser
- gnomAD rs1204827592
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.14
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available