W50C (p.Trp50Cys) variant of G6PC1 (P35575)
W50C (p.Trp50Cys) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W50C (p.Trp50Cys) variant details
- p.Trp50Cys
- rs1057516674
- gnomAD 17-42901025-GGT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 28.10
- Population evidence available
- Structural context available
- Cited in: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type… (PMID 11596659)