G79R (p.Gly79Arg) variant of OTOF (Otoferlin)
G79R (p.Gly79Arg) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, 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 0.86 / 1. The record also includes population frequency data and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs727504911
- ExAC rs727504911
- TOPMed rs727504911
- gnomAD rs727504911
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available