R33Q (p.Arg33Gln) variant of OTOF (Otoferlin)
R33Q (p.Arg33Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs56332208
- ClinGen CA142961
- ClinVar RCV000041593
- ClinVar RCV000883062
- Conflicting interpretations
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)