V53I (p.Val53Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
V53I (p.Val53Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V53I (p.Val53Ile) variant details
- p.Val53Ile
- ESP rs375874967
- ExAC rs375874967
- TOPMed rs375874967
- gnomAD rs375874967
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.30
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available