S4* (p.Ser4Ter) variant of HNF4A (P41235)
S4* (p.Ser4Ter) in HNF4A (P41235) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- gnomAD 20-44390644-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available