T47K (p.Thr47Lys) variant of OTOF (Otoferlin)
T47K (p.Thr47Lys) 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 0.31 / 1. The record also includes population frequency data and structural context.
T47K (p.Thr47Lys) variant details
- p.Thr47Lys
- Ensembl rs1666849705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.34
- CADD 13.80
- PolyPhen-2 0.18
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available