I23N (p.Ile23Asn) variant of SCN9A (Q15858)
I23N (p.Ile23Asn) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I23N (p.Ile23Asn) variant details
- p.Ile23Asn
- rs1389373425
- ClinGen CA349096181
- ClinVar RCV000804385
- ClinVar RCV006367362
- Uncertain significance
- Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.90
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)