S57R (p.Ser57Arg) variant of HNF4A (P41235)
S57R (p.Ser57Arg) in HNF4A (P41235) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S57R (p.Ser57Arg) variant details
- p.Ser57Arg
- rs199678287
- ExAC rs199678287
- TOPMed rs199678287
- gnomAD rs199678287
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.30
- MetaLR 0.74
- MetaSVM -0.49
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available