S109N (p.Ser109Asn) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S109N (p.Ser109Asn) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
S109N (p.Ser109Asn) variant details
- p.Ser109Asn
- rs200211848
- ClinGen CA9787057
- cosmic curated COSV65796
- ClinVar RCV002129800
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.20
- MetaLR 0.08
- MetaSVM -1.09
- PolyPhen-2 0.82
- SIFT 0.02
- MutPred 0.45
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available