L54C (p.Leu54Cys) variant of HNF4A (P41235)
L54C (p.Leu54Cys) in HNF4A (P41235) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L54C (p.Leu54Cys) variant details
- p.Leu54Cys
- gnomAD 20-44402554-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.54
- Population evidence available
- Structural context available
- Literature evidence available