G371R (p.Gly371Arg) variant of OTOF (Otoferlin)
G371R (p.Gly371Arg) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hearing loss, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G371R (p.Gly371Arg) variant details
- p.Gly371Arg
- rs879255246
- ClinGen CA10585888
- ClinVar RCV000239359
- gnomAD rs879255246
- Pathogenic
- Hearing loss, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.99
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hearing loss, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)