R568Q (p.Arg568Gln) variant of OTOF (Otoferlin)
R568Q (p.Arg568Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 9; not specified; Inborn genetic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R568Q (p.Arg568Gln) variant details
- p.Arg568Gln
- rs397517934
- ClinGen CA142758
- ClinVar RCV000041468
- ClinVar RCV002477132
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 9; not specified; Inborn genetic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 9; not specified;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)