A88E (p.Ala88Glu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
A88E (p.Ala88Glu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
A88E (p.Ala88Glu) variant details
- p.Ala88Glu
- rs755036513
- ClinGen CA9787069
- cosmic curated COSV10749
- ClinVar RCV002698623
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.50
- MetaLR 0.06
- MetaSVM -1.12
- PolyPhen-2 0.80
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- 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)