L1616P (p.Leu1616Pro) variant of OTOF (Otoferlin)
L1616P (p.Leu1616Pro) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L1616P (p.Leu1616Pro) variant details
- p.Leu1616Pro
- rs2465519029
- ClinGen CA346134605
- ClinVar RCV003484502
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.72
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available