R49Q (p.Arg49Gln) variant of OTOF (Otoferlin)
R49Q (p.Arg49Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs111033444
- ClinGen CA142744
- NCI-TCGA Cosmic COSV9971
- ClinVar RCV000041461
- Uncertain significance
- not specified; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; Autosomal recessive nonsyndromic hearing loss 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)