R82H (p.Arg82His) variant of OTOF (Otoferlin)
R82H (p.Arg82His) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Childhood onset hearing loss; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R82H (p.Arg82His) variant details
- p.Arg82His
- rs149766574
- ClinGen CA142807
- ClinVar RCV000041499
- ClinVar RCV000767023
- Conflicting interpretations
- Childhood onset hearing loss; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.55
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Childhood onset hearing loss; not specified; not provided)
- EBI: Benign (in dbSNP:rs13031859)
- UniProt: Benign (in dbSNP:rs13031859)
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)