L54F (p.Leu54Phe) variant of HNF4A (P41235)
L54F (p.Leu54Phe) 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.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- rs758079111
- gnomAD 20-44402559-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.73
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Literature evidence available