V79I (p.Val79Ile) variant of SCN8A (Q9UQD0)
V79I (p.Val79Ile) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Seizures, benign familial infantile, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V79I (p.Val79Ile) variant details
- p.Val79Ile
- rs775593096
- ClinGen CA6571014
- ClinVar RCV001879953
- ClinVar RCV004799402
- Uncertain significance
- Early-infantile DEE; Seizures, benign familial infantile, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.36
- ESM-1b 0.14
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.28
- CADD 22.10
- ClinVar: Uncertain significance (Early-infantile DEE; Seizures, benign familial infantile, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00063)
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)