A964E (p.Ala964Glu) variant of OTOF (Otoferlin)
A964E (p.Ala964Glu) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bilateral sensorineural hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A964E (p.Ala964Glu) variant details
- p.Ala964Glu
- rs201329629
- ClinGen CA345110
- ClinVar RCV000056032
- ClinVar RCV001730489
- Pathogenic
- Bilateral sensorineural hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.71
- SIFT 0.04
- EVE 0.22
- ClinVar: Pathogenic (Bilateral sensorineural hearing impairment)
- EBI: Pathogenic (in AUNB1)
- UniProt: Pathogenic (in AUNB1)
- Population evidence available
- Structural context available
- Cited in: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with… (PMID 18381613)
- Cited in: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive… (PMID 16371502)