R14Q (p.Arg14Gln) variant of OTOF (Otoferlin)
R14Q (p.Arg14Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs200279237
- NCI-TCGA Cosmic COSV5552
- cosmic curated COSV55522
- TOPMed rs200279237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.23
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.41
- CADD 23.40
- PolyPhen-2 0.16
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available