V60A (p.Val60Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
V60A (p.Val60Ala) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- TOPMed rs1349005668
- gnomAD rs1349005668
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available