A96E (p.Ala96Glu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
A96E (p.Ala96Glu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
A96E (p.Ala96Glu) variant details
- p.Ala96Glu
- rs752266641
- ClinGen CA9787062
- cosmic curated COSV65795
- ClinVar RCV002905225
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.41
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.64
- SIFT 0.01
- MutPred 0.61
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)