S111R (p.Ser111Arg) variant of OTOF (Otoferlin)
S111R (p.Ser111Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
S111R (p.Ser111Arg) variant details
- p.Ser111Arg
- rs2148098670
- ClinGen CA346139582
- ClinVar RCV002045147
- Ensembl rs2148098670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.28
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available