P490R (p.Pro490Arg) variant of OTOF (Otoferlin)
P490R (p.Pro490Arg) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P490R (p.Pro490Arg) variant details
- p.Pro490Arg
- rs80356585
- ClinGen CA142742
- ClinVar RCV000041460
- ClinVar RCV003114220
- Pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.71
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal reces)
- EBI: Pathogenic (in DFNB9)
- UniProt: Pathogenic (in DFNB9)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)