I62V (p.Ile62Val) variant of SCN9A (Q15858)
I62V (p.Ile62Val) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy with febrile seizures plus, type 7; Neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- rs121908920
- ClinGen CA118170
- ClinVar RCV000006740
- ClinVar RCV000215091
- Uncertain significance
- not provided; Generalized epilepsy with febrile seizures plus, type 7; Neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- MetaLR 0.92
- MetaSVM 1.09
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. (PMID 19763161)
- Cited in: No association between SCN9A and monogenic human epilepsy disorders. (PMID 33216760)