L54S (p.Leu54Ser) variant of HNF4A (P41235)
L54S (p.Leu54Ser) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L54S (p.Leu54Ser) variant details
- p.Leu54Ser
- gnomAD 20-44402558-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.50
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available