A6S (p.Ala6Ser) variant of FOXO3 (Forkhead box protein O3)
A6S (p.Ala6Ser) in FOXO3 (Forkhead box protein O3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs1396187319
- ClinGen CA365336815
- cosmic curated COSV59626
- ClinVar RCV004351991
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- MetaLR 0.16
- MetaSVM -0.91
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available