G12V (p.Gly12Val) variant of G6PC1 (P35575)
G12V (p.Gly12Val) in G6PC1 (P35575) 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 0.87 / 1. The record also includes population frequency data and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs775755718
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- ExAC rs775755718
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available