E44K (p.Glu44Lys) variant of SCN9A (Q15858)
E44K (p.Glu44Lys) in SCN9A (Q15858) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs757848676
- ClinGen CA1944882
- ClinVar RCV003386064
- ExAC rs757848676
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- MetaLR 0.90
- MetaSVM 0.89
- CADD 20.30
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)