L7F (p.Leu7Phe) variant of HNF4A (P41235)
L7F (p.Leu7Phe) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs775770184
- gnomAD 20-44355826-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available