L3F (p.Leu3Phe) variant of OTOF (Otoferlin)
L3F (p.Leu3Phe) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- ExAC rs779861554
- gnomAD rs779861554
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available