R33P (p.Arg33Pro) variant of OTOF (Otoferlin)
R33P (p.Arg33Pro) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- 1000Genomes rs56332208
- ESP rs56332208
- ExAC rs56332208
- TOPMed rs56332208
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.53
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)
- Structural context available