V116I (p.Val116Ile) variant of OTOF (Otoferlin)
V116I (p.Val116Ile) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
V116I (p.Val116Ile) variant details
- p.Val116Ile
- rs1666532895
- ClinGen CA346139556
- ClinVar RCV002743285
- Ensembl rs1666532895
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.90
- MutPred 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)