D11E (p.Asp11Glu) variant of HNF4A (P41235)
D11E (p.Asp11Glu) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- gnomAD 20-44390672-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 12.20
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available