E27A (p.Glu27Ala) variant of FOXI1 (Forkhead box protein I1)
E27A (p.Glu27Ala) 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; not provided; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- rs752331785
- ClinGen CA3554952
- ClinVar RCV003144084
- ClinVar RCV005099406
- Uncertain significance
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.61
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)