H157Q (p.His157Gln) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
H157Q (p.His157Gln) 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 0.50 / 1. The record also includes population frequency data.
H157Q (p.His157Gln) variant details
- p.His157Gln
- rs144279222
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- ESP rs144279222
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.06
- PolyPhen-2 0.48
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available