S3F (p.Ser3Phe) variant of FOXI1 (Forkhead box protein I1)
S3F (p.Ser3Phe) 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 Autosomal recessive nonsyndromic hearing loss 4; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- rs374176565
- ClinGen CA3554927
- ClinVar RCV004392270
- ClinVar RCV005038653
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)