R26L (p.Arg26Leu) variant of OTOF (Otoferlin)
R26L (p.Arg26Leu) 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.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs749555751
- NCI-TCGA Cosmic COSV5549
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99718
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.40
- CADD 25.60
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available