L54W (p.Leu54Trp) variant of HNF4A (P41235)
L54W (p.Leu54Trp) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L54W (p.Leu54Trp) variant details
- p.Leu54Trp
- rs746482984
- gnomAD 20-44402561-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- CADD 0.79
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available