D1514G (p.Asp1514Gly) variant of OTOF (Otoferlin)
D1514G (p.Asp1514Gly) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hearing loss, autosomal recessive; Bilateral sensorineural hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D1514G (p.Asp1514Gly) variant details
- p.Asp1514Gly
- rs2148028248
- ClinGen CA346136081
- ClinVar RCV001730841
- ClinVar RCV004719044
- Likely pathogenic
- Hearing loss, autosomal recessive; Bilateral sensorineural hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Hearing loss, autosomal recessive; Bilateral sensorineural heari)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)