L48L (p.Leu48Leu) variant of HNF4A (P41235)
L48L (p.Leu48Leu) in HNF4A (P41235) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- rs1209687173
- gnomAD 20-44401773-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 8.09
- Population evidence available
- Structural context available
- Literature evidence available