S15R (p.Ser15Arg) variant of FOXI1 (Forkhead box protein I1)
S15R (p.Ser15Arg) in FOXI1 (Forkhead box protein I1) 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 0.41 / 1. The record also includes population frequency data and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- gnomAD rs1293560738
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.48
- CADD 22.20
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available