S16G (p.Ser16Gly) variant of HNF4A (P41235)
S16G (p.Ser16Gly) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- ExAC rs765342557
- TOPMed rs765342557
- gnomAD rs765342557
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- MetaLR 0.62
- MetaSVM -0.04
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available