I23F (p.Ile23Phe) variant of SCN9A (Q15858)
I23F (p.Ile23Phe) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I23F (p.Ile23Phe) variant details
- p.Ile23Phe
- rs2105227146
- ClinGen CA349096184
- ClinVar RCV003791669
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.00
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)