S57N (p.Ser57Asn) variant of HNF4A (P41235)
S57N (p.Ser57Asn) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- ExAC rs201545824
- TOPMed rs201545824
- gnomAD rs201545824
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- MetaLR 0.67
- MetaSVM 0.13
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available