L7F (p.Leu7Phe) variant of OTOF (Otoferlin)
L7F (p.Leu7Phe) in OTOF (Otoferlin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs757533828
- NCI-TCGA Cosmic COSV5550
- cosmic curated COSV55502
- ExAC rs757533828
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available