R14L (p.Arg14Leu) variant of OTOF (Otoferlin)
R14L (p.Arg14Leu) 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 0.41 / 1. The record also includes published literature and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs200279237
- ClinGen CA346106606
- ClinVar RCV002748651
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.41
- PolyPhen-2 0.16
- SIFT 0.26
- MutPred 0.50
- 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)