G1654S (p.Gly1654Ser) variant of OTOF (Otoferlin)
G1654S (p.Gly1654Ser) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hearing loss, autosomal recessive; Bilateral sensorineural hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G1654S (p.Gly1654Ser) variant details
- p.Gly1654Ser
- rs1005694756
- ClinGen CA44411381
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55497
- Likely pathogenic
- Hearing loss, autosomal recessive; Bilateral sensorineural hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.37
- CADD 33.00
- PolyPhen-2 0.92
- SIFT 0.12
- ClinVar: Likely pathogenic (Hearing loss, autosomal recessive; Bilateral sensorineural heari)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)