S93L (p.Ser93Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S93L (p.Ser93Leu) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
S93L (p.Ser93Leu) variant details
- p.Ser93Leu
- rs200457711
- ClinGen CA313137800
- cosmic curated COSV10749
- ClinVar RCV002626755
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.53
- MetaLR 0.56
- MetaSVM 0.17
- PolyPhen-2 0.98
- SIFT 0.04
- MutPred 0.45
- ClinVar: Uncertain significance (not provided; 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)