I68V (p.Ile68Val) variant of SCN8A (Q9UQD0)
I68V (p.Ile68Val) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
I68V (p.Ile68Val) variant details
- p.Ile68Val
- rs797045945
- ClinGen CA205121
- cosmic curated COSV61976
- ClinVar RCV000192357
- Conflicting interpretations
- Early-infantile DEE; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.84
- MetaSVM 0.72
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available