A58P (p.Ala58Pro) variant of HNF4A (P41235)
A58P (p.Ala58Pro) in HNF4A (P41235) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A58P (p.Ala58Pro) variant details
- p.Ala58Pro
- ESP rs376906221
- ExAC rs376906221
- TOPMed rs376906221
- gnomAD rs376906221
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.29
- MetaLR 0.69
- MetaSVM 0.27
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available