V60I (p.Val60Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
V60I (p.Val60Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- rs1161714920
- gnomAD rs1161714920
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.67
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available