V8M (p.Val8Met) variant of HNF4A (P41235)
V8M (p.Val8Met) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs746433493
- gnomAD 20-44355814-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available