E63K (p.Glu63Lys) variant of OTOF (Otoferlin)
E63K (p.Glu63Lys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- rs753461913
- ClinGen CA1564770
- cosmic curated COSV55509
- ClinVar RCV003367674
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)