E54G (p.Glu54Gly) variant of FOXI1 (Forkhead box protein I1)
E54G (p.Glu54Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- rs1417785705
- ClinGen CA362124012
- ClinVar RCV001152644
- TOPMed rs1417785705
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 22.80
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)