G30E (p.Gly30Glu) variant of F7 (Coagulation factor VII)
G30E (p.Gly30Glu) in F7 (Coagulation factor VII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- gnomAD 13-113106867-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available