E36* (p.Glu36Ter) variant of FAS (P25445)
E36* (p.Glu36Ter) in FAS (P25445) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- gnomAD 10-88989547-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 6.18
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available