I99V (p.Ile99Val) variant of SCN1A (P35498)
I99V (p.Ile99Val) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I99V (p.Ile99Val) variant details
- p.Ile99Val
- rs2468272893
- ClinGen CA349077183
- ClinVar RCV006561937
- NCI-TCGA TCGA novel
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 24.30
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available