p.Leu58 Leu61del variant of HNF4A (P41235)
p.Leu58 Leu61del in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu58 Leu61del variant details
- gnomAD 20-44402570-GTCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 5.73
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available