W70C (p.Trp70Cys) variant of G6PC1 (P35575)
W70C (p.Trp70Cys) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
W70C (p.Trp70Cys) variant details
- p.Trp70Cys
- gnomAD 17-42901086-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- MetaLR 0.67
- MetaSVM 0.50
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available