F28L (p.Phe28Leu) variant of HNF4A (P41235)
F28L (p.Phe28Leu) in HNF4A (P41235) is a missense 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.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- gnomAD 20-44390661-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.85
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available