G541S (p.Gly541Ser) variant of OTOF (Otoferlin)
G541S (p.Gly541Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G541S (p.Gly541Ser) variant details
- p.Gly541Ser
- rs397515435
- ClinGen CA261250
- ClinVar RCV000033199
- ClinVar RCV005237453
- Pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal reces)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. (PMID 22575033)
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)