G45S (p.Gly45Ser) variant of HNF4A (P41235)
G45S (p.Gly45Ser) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- Ensembl rs2063495593
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.25
- MetaLR 0.37
- MetaSVM -0.66
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available