S57I (p.Ser57Ile) variant of HNF4A (P41235)
S57I (p.Ser57Ile) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S57I (p.Ser57Ile) variant details
- p.Ser57Ile
- ExAC rs201545824
- TOPMed rs201545824
- gnomAD rs201545824
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.46
- MetaLR 0.79
- MetaSVM 0.49
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available