R49W (p.Arg49Trp) variant of OTOF (Otoferlin)
R49W (p.Arg49Trp) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs61746568
- ClinGen CA142740
- cosmic curated COSV10455
- ClinVar RCV000041459
- Benign/Likely benign
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:KARITIANA population (allele frequency 0.15)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)