E36D (p.Glu36Asp) variant of OTOF (Otoferlin)
E36D (p.Glu36Asp) in OTOF (Otoferlin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- NCI-TCGA Cosmic COSV5550
- cosmic curated COSV55502
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.84
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available