G27E (p.Gly27Glu) variant of OTOF (Otoferlin)
G27E (p.Gly27Glu) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs778056468
- ClinGen CA1564818
- cosmic curated COSV55500
- ClinVar RCV000214397
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available