S48F (p.Ser48Phe) variant of FOXI1 (Forkhead box protein I1)
S48F (p.Ser48Phe) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- rs1758470315
- ClinGen CA362123977
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10008
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available