A158S (p.Ala158Ser) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
A158S (p.Ala158Ser) 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 0.44 / 1. The record also includes population frequency data.
A158S (p.Ala158Ser) variant details
- p.Ala158Ser
- rs745424789
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65796
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.78
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available