S4L (p.Ser4Leu) variant of HNF4A (P41235)
S4L (p.Ser4Leu) in HNF4A (P41235) is a missense 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.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs780566668
- gnomAD 20-44390644-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 21.10
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available