A16* (p.Ala16Ter) variant of FAS (P25445)
A16* (p.Ala16Ter) in FAS (P25445) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A16* (p.Ala16Ter) variant details
- p.Ala16Ter
- rs1848019699
- gnomAD 10-89003043-TGC-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available