K17E (p.Lys17Glu) variant of SCN9A (Q15858)
K17E (p.Lys17Glu) 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; Neuropathy, hereditary sensory and autonomic, type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- rs181981693
- ClinGen CA1944899
- cosmic curated COSV10031
- ClinVar RCV001052029
- Uncertain significance
- Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- MetaLR 0.68
- MetaSVM -0.09
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)