R49L (p.Arg49Leu) variant of OTOF (Otoferlin)
R49L (p.Arg49Leu) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- cosmic curated COSV99718
- ExAC rs111033444
- TOPMed rs111033444
- gnomAD rs111033444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available