K76R (p.Lys76Arg) variant of OTOF (Otoferlin)
K76R (p.Lys76Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
K76R (p.Lys76Arg) variant details
- p.Lys76Arg
- rs759954218
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99716
- ExAC rs759954218
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.12
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available