I515T (p.Ile515Thr) variant of OTOF (Otoferlin)
I515T (p.Ile515Thr) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive OTOF-related disorders; Rare genetic deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I515T (p.Ile515Thr) variant details
- p.Ile515Thr
- rs80356586
- ClinGen CA117973
- ClinVar RCV000006517
- ClinVar RCV000021035
- Likely pathogenic
- Autosomal recessive OTOF-related disorders; Rare genetic deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive OTOF-related disorders; Rare genetic deafnes)
- EBI: Pathogenic (in DFNB9 and AUNB1)
- UniProt: Pathogenic (in DFNB9 and AUNB1)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. (PMID 12127154)
- Cited in: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive… (PMID 16371502)