R82L (p.Arg82Leu) variant of OTOF (Otoferlin)
R82L (p.Arg82Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
R82L (p.Arg82Leu) variant details
- p.Arg82Leu
- 1000Genomes rs149766574
- ESP rs149766574
- ExAC rs149766574
- TOPMed rs149766574
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.72
- EBI: Benign (in dbSNP:rs13031859)
- UniProt: Benign (in dbSNP:rs13031859)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available