G104A (p.Gly104Ala) variant of FOXO1 (Forkhead box protein O1)
G104A (p.Gly104Ala) in FOXO1 (Forkhead box protein O1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of FOXO1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
G104A (p.Gly104Ala) variant details
- p.Gly104Ala
- rs963605898
- ClinGen CA248985514
- ClinVar RCV003976968
- 1000Genomes rs963605898
- Likely benign
- FOXO1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.28
- MetaLR 0.39
- MetaSVM -0.55
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Likely benign (FOXO1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)