I1573T (p.Ile1573Thr) variant of OTOF (Otoferlin)
I1573T (p.Ile1573Thr) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I1573T (p.Ile1573Thr) variant details
- p.Ile1573Thr
- rs111033405
- ClinGen CA344698
- ClinVar RCV000041550
- ClinVar RCV000211733
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.92
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal reces)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)