I38L (p.Ile38Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
I38L (p.Ile38Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I38L (p.Ile38Leu) variant details
- p.Ile38Leu
- ESP rs149874491
- ExAC rs149874491
- TOPMed rs149874491
- gnomAD rs149874491
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available