Y18C (p.Tyr18Cys) variant of G6PC1 (P35575)
Y18C (p.Tyr18Cys) 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 0.66 / 1. The record also includes population frequency data and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.66
- CADD 27.30
- PolyPhen-2 0.87
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available