L3N (p.Leu3Asn) variant of HNF4A (P41235)
L3N (p.Leu3Asn) in HNF4A (P41235) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L3N (p.Leu3Asn) variant details
- p.Leu3Asn
- rs1253819799
- gnomAD 20-44401377-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available