K71E (p.Lys71Glu) variant of OTOF (Otoferlin)
K71E (p.Lys71Glu) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K71E (p.Lys71Glu) variant details
- p.Lys71Glu
- rs2465385722
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55496
- ClinGen CA346139866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.50
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available