I23L (p.Ile23Leu) variant of SCN9A (Q15858)
I23L (p.Ile23Leu) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
I23L (p.Ile23Leu) variant details
- p.Ile23Leu
- rs2105227146
- ClinGen CA349096186
- ClinVar RCV001977388
- Ensembl rs2105227146
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.91
- MetaSVM 0.92
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)